Canonical Allele Identifier: CA607154495

Gene: PAH

Linked Data

• dbSNP Id: rs1361251173
• gnomAD v2: 12-103246477-A-T
• gnomAD v3: 12-102852699-A-T
• gnomAD v4: 12-102852699-A-T
• MyVariant Identifiers: chr12:g.103246477A>T (hg19) ; chr12:g.102852699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852699A>T , CM000674.2:g.102852699A>T	GRCh38
NC_000012.11:g.103246477A>T , CM000674.1:g.103246477A>T	GRCh37
NC_000012.10:g.101770607A>T	NCBI36
NG_008690.1:g.69904T>A
NG_008690.2:g.110712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+116T>A MANE Select	ENSP00000448059.1:n.842+116T>A
ENST00000307000.7:c.827+116T>A	ENSP00000303500.2:n.827+116T>A
ENST00000549247.6:n.601+116T>A
ENST00000553106.5:c.842+116T>A	ENSP00000448059.1:n.842+116T>A
ENST00000635477.1:c.3+116T>A
NM_000277.1:c.842+116T>A	NP_000268.1:n.842+116T>A
XM_011538422.1:c.842+116T>A	XP_011536724.1:n.842+116T>A
NM_000277.2:c.842+116T>A	NP_000268.1:n.842+116T>A
NM_001354304.1:c.842+116T>A	NP_001341233.1:n.842+116T>A
NM_000277.3:c.842+116T>A MANE Select	NP_000268.1:n.842+116T>A
NM_001354304.2:c.842+116T>A	NP_001341233.1:n.842+116T>A