Canonical Allele Identifier: CA384799467

Gene: GPD1

Linked Data

• MyVariant Identifiers: chr12:g.50498419G>C (hg19) ; chr12:g.50104636G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50104636G>C , CM000674.2:g.50104636G>C	GRCh38
NC_000012.11:g.50498419G>C , CM000674.1:g.50498419G>C	GRCh37
NC_000012.10:g.48784686G>C	NCBI36
NG_032168.1:g.5818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301149.8:c.104G>C MANE Select	ENSP00000301149.3:p.Arg35Pro
ENST00000301149.7:c.104G>C	ENSP00000301149.3:p.Arg35Pro
ENST00000547190.5:n.147G>C
ENST00000547964.5:c.148G>C	ENSP00000448244.1:p.Gly50Arg
ENST00000548152.1:n.175G>C
ENST00000548814.1:c.104G>C	ENSP00000446768.1:p.Arg35Pro
ENST00000551939.5:n.147G>C
NM_001257199.1:c.104G>C	NP_001244128.1:p.Arg35Pro
NM_005276.3:c.104G>C	NP_005267.2:p.Arg35Pro
NM_005276.4:c.104G>C MANE Select	NP_005267.2:p.Arg35Pro
NM_001257199.2:c.104G>C	NP_001244128.1:p.Arg35Pro