Canonical Allele Identifier: CA2726966742
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136632441
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840736_102840737del , CM000674.2:g.102840736_102840737del GRCh38
NC_000012.11:g.103234514_103234515del , CM000674.1:g.103234514_103234515del GRCh37
NC_000012.10:g.101758644_101758645del NCBI36
NG_008690.1:g.81869_81870del
NG_008690.2:g.122677_122678del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-219_1200-218del MANE Select ENSP00000448059.1:n.1200-219_1200-218del
ENST00000307000.7:c.1185-219_1185-218del ENSP00000303500.2:n.1185-219_1185-218del
ENST00000549247.6:n.959-219_959-218del
ENST00000551114.2:n.862-219_862-218del
ENST00000553106.5:c.1200-219_1200-218del ENSP00000448059.1:n.1200-219_1200-218del
ENST00000635477.1:c.304-219_304-218del
ENST00000635528.1:n.715-219_715-218del
NM_000277.1:c.1200-219_1200-218del NP_000268.1:n.1200-219_1200-218del
XM_011538422.1:c.1143-219_1143-218del XP_011536724.1:n.1143-219_1143-218del
NM_000277.2:c.1200-219_1200-218del NP_000268.1:n.1200-219_1200-218del
NM_001354304.1:c.1200-219_1200-218del NP_001341233.1:n.1200-219_1200-218del
NM_000277.3:c.1200-219_1200-218del MANE Select NP_000268.1:n.1200-219_1200-218del
NM_001354304.2:c.1200-219_1200-218del NP_001341233.1:n.1200-219_1200-218del
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