Canonical Allele Identifier: CA682824920

Gene: PAH

Linked Data

• dbSNP Id: rs1202608132
• gnomAD v3: 12-102846849-T-C
• gnomAD v4: 12-102846849-T-C
• MyVariant Identifiers: chr12:g.103240627T>C (hg19) ; chr12:g.102846849T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846849T>C , CM000674.2:g.102846849T>C	GRCh38
NC_000012.11:g.103240627T>C , CM000674.1:g.103240627T>C	GRCh37
NC_000012.10:g.101764757T>C	NCBI36
NG_008690.1:g.75754A>G
NG_008690.2:g.116562A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.969+46A>G MANE Select	ENSP00000448059.1:n.969+46A>G
ENST00000307000.7:c.954+46A>G	ENSP00000303500.2:n.954+46A>G
ENST00000549247.6:n.728+46A>G
ENST00000551114.2:n.631+46A>G
ENST00000553106.5:c.969+46A>G	ENSP00000448059.1:n.969+46A>G
ENST00000635477.1:c.74-2418A>G
ENST00000635528.1:n.484+46A>G
NM_000277.1:c.969+46A>G	NP_000268.1:n.969+46A>G
XM_011538422.1:c.913-2418A>G	XP_011536724.1:n.913-2418A>G
NM_000277.2:c.969+46A>G	NP_000268.1:n.969+46A>G
NM_001354304.1:c.969+46A>G	NP_001341233.1:n.969+46A>G
NM_000277.3:c.969+46A>G MANE Select	NP_000268.1:n.969+46A>G
NM_001354304.2:c.969+46A>G	NP_001341233.1:n.969+46A>G