Canonical Allele Identifier: CA13674150

Gene: PAH

Linked Data

• dbSNP Id: rs3817446
• gnomAD v2: 12-103260819-T-C
• gnomAD v3: 12-102867041-T-C
• gnomAD v4: 12-102867041-T-C
• MyVariant Identifiers: chr12:g.103260819T>C (hg19) ; chr12:g.102867041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102867041T>C , CM000674.2:g.102867041T>C	GRCh38
NC_000012.11:g.103260819T>C , CM000674.1:g.103260819T>C	GRCh37
NC_000012.10:g.101784949T>C	NCBI36
NG_008690.1:g.55562A>G
NG_008690.2:g.96370A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.442-378A>G MANE Select	ENSP00000448059.1:n.442-378A>G
ENST00000307000.7:c.427-378A>G	ENSP00000303500.2:n.427-378A>G
ENST00000549111.5:n.538-378A>G
ENST00000551988.5:n.530+10421A>G
ENST00000553106.5:c.442-378A>G	ENSP00000448059.1:n.442-378A>G
NM_000277.1:c.442-378A>G	NP_000268.1:n.442-378A>G
XM_011538422.1:c.442-378A>G	XP_011536724.1:n.442-378A>G
NM_000277.2:c.442-378A>G	NP_000268.1:n.442-378A>G
NM_001354304.1:c.442-378A>G	NP_001341233.1:n.442-378A>G
XM_017019370.2:c.442-378A>G	XP_016874859.1:n.442-378A>G
NM_000277.3:c.442-378A>G MANE Select	NP_000268.1:n.442-378A>G
NM_001354304.2:c.442-378A>G	NP_001341233.1:n.442-378A>G