Canonical Allele Identifier: CA242472364

Gene: PAH

Linked Data

• dbSNP Id: rs2280616
• gnomAD v2: 12-103311155-G-A
• gnomAD v3: 12-102917377-G-A
• gnomAD v4: 12-102917377-G-A
• MyVariant Identifiers: chr12:g.103311155G>A (hg19) ; chr12:g.102917377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917377G>A , CM000674.2:g.102917377G>A	GRCh38
NC_000012.11:g.103311155G>A , CM000674.1:g.103311155G>A	GRCh37
NC_000012.10:g.101835285G>A	NCBI36
NG_008690.1:g.5227C>T
NG_008690.2:g.46034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-152C>T
ENST00000546844.1:c.-95-152C>T	ENSP00000446658.1:n.-95-152C>T
ENST00000547319.1:n.217-152C>T
ENST00000551337.5:c.-95-152C>T	ENSP00000447620.1:n.-95-152C>T
ENST00000553106.5:c.-247C>T	ENSP00000448059.1:n.-247C>T
ENST00000635500.1:n.29-4479C>T
NM_000277.1:c.-246C>T	NP_000268.1:n.-246C>T
NM_000277.2:c.-247C>T	NP_000268.1:n.-247C>T
NM_001354304.1:c.-95-152C>T	NP_001341233.1:n.-95-152C>T
NM_001354304.2:c.-95-152C>T	NP_001341233.1:n.-95-152C>T