Canonical Allele Identifier: CA404318735

Gene: GCDH

Linked Data

• gnomAD v4: 19-12896293-A-G
• MyVariant Identifiers: chr19:g.13007107A>G (hg19) ; chr19:g.12896293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896293A>G , CM000681.2:g.12896293A>G	GRCh38
NC_000019.9:g.13007107A>G , CM000681.1:g.13007107A>G	GRCh37
NC_000019.8:g.12868107A>G	NCBI36
NG_009292.1:g.10134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.724A>G MANE Select	ENSP00000222214.4:p.Met242Val
ENST00000222214.9:c.724A>G	ENSP00000222214.4:p.Met242Val
ENST00000421816.6:n.702A>G
ENST00000585420.5:n.1054A>G
ENST00000590530.5:c.*164A>G	ENSP00000468452.1:n.*164A>G
ENST00000591043.1:n.760A>G
ENST00000591470.5:c.724A>G	ENSP00000466845.1:p.Met242Val
NM_000159.3:c.724A>G	NP_000150.1:p.Met242Val
NM_013976.3:c.724A>G	NP_039663.1:p.Met242Val
NR_102316.1:n.887A>G
NR_102317.1:n.1105A>G
XM_006722721.2:c.724A>G	XP_006722784.1:p.Met242Val
XM_011527899.1:c.724A>G	XP_011526201.1:p.Met242Val
XM_011527900.1:c.724A>G	XP_011526202.1:p.Met242Val
XM_011527899.2:c.724A>G	XP_011526201.1:p.Met242Val
XM_011527900.2:c.724A>G	XP_011526202.1:p.Met242Val
XM_017026580.1:c.724A>G	XP_016882069.1:p.Met242Val
NM_000159.4:c.724A>G MANE Select	NP_000150.1:p.Met242Val
NM_013976.4:c.724A>G	NP_039663.1:p.Met242Val
NM_013976.5:c.724A>G	NP_039663.1:p.Met242Val