Canonical Allele Identifier: CA631852423

Gene: GCDH

Linked Data

• dbSNP Id: rs1239205147
• gnomAD v2: 19-13006726-A-C
• gnomAD v3: 19-12895912-A-C
• gnomAD v4: 19-12895912-A-C
• MyVariant Identifiers: chr19:g.13006726A>C (hg19) ; chr19:g.12895912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12895912A>C , CM000681.2:g.12895912A>C	GRCh38
NC_000019.9:g.13006726A>C , CM000681.1:g.13006726A>C	GRCh37
NC_000019.8:g.12867726A>C	NCBI36
NG_009292.1:g.9753A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.506-80A>C MANE Select	ENSP00000222214.4:n.506-80A>C
ENST00000222214.9:c.506-80A>C	ENSP00000222214.4:n.506-80A>C
ENST00000421816.6:n.484-80A>C
ENST00000585420.5:n.871-80A>C
ENST00000588905.5:c.470-80A>C	ENSP00000465770.1:n.470-80A>C
ENST00000589039.5:c.443-80A>C	ENSP00000465618.1:n.443-80A>C
ENST00000590530.5:c.561-80A>C	ENSP00000468452.1:n.561-80A>C
ENST00000591043.1:n.542-80A>C
ENST00000591470.5:c.506-80A>C	ENSP00000466845.1:n.506-80A>C
NM_000159.3:c.506-80A>C	NP_000150.1:n.506-80A>C
NM_013976.3:c.506-80A>C	NP_039663.1:n.506-80A>C
NR_102316.1:n.669-80A>C
NR_102317.1:n.922-80A>C
XM_006722721.2:c.506-80A>C	XP_006722784.1:n.506-80A>C
XM_011527899.1:c.506-80A>C	XP_011526201.1:n.506-80A>C
XM_011527900.1:c.506-80A>C	XP_011526202.1:n.506-80A>C
XM_011527899.2:c.506-80A>C	XP_011526201.1:n.506-80A>C
XM_011527900.2:c.506-80A>C	XP_011526202.1:n.506-80A>C
XM_017026580.1:c.506-80A>C	XP_016882069.1:n.506-80A>C
NM_000159.4:c.506-80A>C MANE Select	NP_000150.1:n.506-80A>C
NM_013976.4:c.506-80A>C	NP_039663.1:n.506-80A>C
NM_013976.5:c.506-80A>C	NP_039663.1:n.506-80A>C