Canonical Allele Identifier: CA242743509
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs572691049
gnomAD v4: 12-102840657-C-G
MyVariant Identifiers: chr12:g.102840657C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840657C>G , CM000674.2:g.102840657C>G GRCh38
NC_000012.11:g.103234435C>G , CM000674.1:g.103234435C>G GRCh37
NC_000012.10:g.101758565C>G NCBI36
NG_008690.1:g.81946G>C
NG_008690.2:g.122754G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-142G>C MANE Select ENSP00000448059.1:n.1200-142G>C
ENST00000307000.7:c.1185-142G>C ENSP00000303500.2:n.1185-142G>C
ENST00000549247.6:n.959-142G>C
ENST00000551114.2:n.862-142G>C
ENST00000553106.5:c.1200-142G>C ENSP00000448059.1:n.1200-142G>C
ENST00000635477.1:c.304-142G>C
ENST00000635528.1:n.715-142G>C
NM_000277.1:c.1200-142G>C NP_000268.1:n.1200-142G>C
XM_011538422.1:c.1143-142G>C XP_011536724.1:n.1143-142G>C
NM_000277.2:c.1200-142G>C NP_000268.1:n.1200-142G>C
NM_001354304.1:c.1200-142G>C NP_001341233.1:n.1200-142G>C
NM_000277.3:c.1200-142G>C MANE Select NP_000268.1:n.1200-142G>C
NM_001354304.2:c.1200-142G>C NP_001341233.1:n.1200-142G>C
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