Canonical Allele Identifier: CA2059442250
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840582_102840583delinsTC , CM000674.2:g.102840582_102840583delinsTC GRCh38
NC_000012.11:g.103234360_103234361delinsTC , CM000674.1:g.103234360_103234361delinsTC GRCh37
NC_000012.10:g.101758490_101758491delinsTC NCBI36
NG_008690.1:g.82020_82021delinsGA
NG_008690.2:g.122828_122829delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-68_1200-67delinsGA MANE Select ENSP00000448059.1:n.1200-68_1200-67delinsGA
ENST00000307000.7:c.1185-68_1185-67delinsGA ENSP00000303500.2:n.1185-68_1185-67delinsGA
ENST00000549247.6:n.959-68_959-67delinsGA
ENST00000551114.2:n.862-68_862-67delinsGA
ENST00000553106.5:c.1200-68_1200-67delinsGA ENSP00000448059.1:n.1200-68_1200-67delinsGA
ENST00000635477.1:c.304-68_304-67delinsGA
ENST00000635528.1:n.715-68_715-67delinsGA
NM_000277.1:c.1200-68_1200-67delinsGA NP_000268.1:n.1200-68_1200-67delinsGA
XM_011538422.1:c.1143-68_1143-67delinsGA XP_011536724.1:n.1143-68_1143-67delinsGA
NM_000277.2:c.1200-68_1200-67delinsGA NP_000268.1:n.1200-68_1200-67delinsGA
NM_001354304.1:c.1200-68_1200-67delinsGA NP_001341233.1:n.1200-68_1200-67delinsGA
NM_000277.3:c.1200-68_1200-67delinsGA MANE Select NP_000268.1:n.1200-68_1200-67delinsGA
NM_001354304.2:c.1200-68_1200-67delinsGA NP_001341233.1:n.1200-68_1200-67delinsGA
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