Canonical Allele Identifier: CA242508506

Gene: PAH

Linked Data

• dbSNP Id: rs753127051
• gnomAD v2: 12-103286949-G-A
• gnomAD v3: 12-102893171-G-A
• gnomAD v4: 12-102893171-G-A
• MyVariant Identifiers: chr12:g.103286949G>A (hg19) ; chr12:g.102893171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102893171G>A , CM000674.2:g.102893171G>A	GRCh38
NC_000012.11:g.103286949G>A , CM000674.1:g.103286949G>A	GRCh37
NC_000012.10:g.101811079G>A	NCBI36
NG_008690.1:g.29432C>T
NG_008690.2:g.70240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.352+1564C>T MANE Select	ENSP00000448059.1:n.352+1564C>T
ENST00000307000.7:c.337+1564C>T	ENSP00000303500.2:n.337+1564C>T
ENST00000548928.1:n.274+1564C>T
ENST00000549111.5:n.448+1564C>T
ENST00000550978.6:c.336+1564C>T
ENST00000551337.5:c.352+1564C>T	ENSP00000447620.1:n.352+1564C>T
ENST00000551988.5:n.441+1564C>T
ENST00000553106.5:c.352+1564C>T	ENSP00000448059.1:n.352+1564C>T
NM_000277.1:c.352+1564C>T	NP_000268.1:n.352+1564C>T
XM_011538422.1:c.352+1564C>T	XP_011536724.1:n.352+1564C>T
NM_000277.2:c.352+1564C>T	NP_000268.1:n.352+1564C>T
NM_001354304.1:c.352+1564C>T	NP_001341233.1:n.352+1564C>T
XM_017019370.2:c.352+1564C>T	XP_016874859.1:n.352+1564C>T
NM_000277.3:c.352+1564C>T MANE Select	NP_000268.1:n.352+1564C>T
NM_001354304.2:c.352+1564C>T	NP_001341233.1:n.352+1564C>T