Canonical Allele Identifier: CA242472388

Gene: PAH

Linked Data

• dbSNP Id: rs971249508
• gnomAD v2: 12-103311166-G-T
• gnomAD v3: 12-102917388-G-T
• gnomAD v4: 12-102917388-G-T
• MyVariant Identifiers: chr12:g.103311166G>T (hg19) ; chr12:g.102917388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917388G>T , CM000674.2:g.102917388G>T	GRCh38
NC_000012.11:g.103311166G>T , CM000674.1:g.103311166G>T	GRCh37
NC_000012.10:g.101835296G>T	NCBI36
NG_008690.1:g.5216C>A
NG_008690.2:g.46023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-163C>A
ENST00000546844.1:c.-95-163C>A	ENSP00000446658.1:n.-95-163C>A
ENST00000547319.1:n.217-163C>A
ENST00000551337.5:c.-95-163C>A	ENSP00000447620.1:n.-95-163C>A
ENST00000553106.5:c.-258C>A	ENSP00000448059.1:n.-258C>A
ENST00000635500.1:n.29-4490C>A
NM_000277.1:c.-257C>A	NP_000268.1:n.-257C>A
NM_000277.2:c.-258C>A	NP_000268.1:n.-258C>A
NM_001354304.1:c.-95-163C>A	NP_001341233.1:n.-95-163C>A
NM_001354304.2:c.-95-163C>A	NP_001341233.1:n.-95-163C>A