Canonical Allele Identifier: CA242472309

Gene: PAH

Linked Data

• dbSNP Id: rs547091601
• gnomAD v2: 12-103311136-G-C
• gnomAD v3: 12-102917358-G-C
• gnomAD v4: 12-102917358-G-C
• MyVariant Identifiers: chr12:g.103311136G>C (hg19) ; chr12:g.102917358G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917358G>C , CM000674.2:g.102917358G>C	GRCh38
NC_000012.11:g.103311136G>C , CM000674.1:g.103311136G>C	GRCh37
NC_000012.10:g.101835266G>C	NCBI36
NG_008690.1:g.5246C>G
NG_008690.2:g.46053C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-133C>G
ENST00000546844.1:c.-95-133C>G	ENSP00000446658.1:n.-95-133C>G
ENST00000547319.1:n.217-133C>G
ENST00000551337.5:c.-95-133C>G	ENSP00000447620.1:n.-95-133C>G
ENST00000553106.5:c.-228C>G	ENSP00000448059.1:n.-228C>G
ENST00000635500.1:n.29-4460C>G
NM_000277.1:c.-227C>G	NP_000268.1:n.-227C>G
NM_000277.2:c.-228C>G	NP_000268.1:n.-228C>G
NM_001354304.1:c.-95-133C>G	NP_001341233.1:n.-95-133C>G
NM_001354304.2:c.-95-133C>G	NP_001341233.1:n.-95-133C>G