Canonical Allele Identifier: CA404317935

Gene: GCDH

Linked Data

• dbSNP Id: rs398123193
• gnomAD v2: 19-13006817-C-G
• gnomAD v4: 19-12896003-C-G
• MyVariant Identifiers: chr19:g.13006817C>G (hg19) ; chr19:g.12896003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896003C>G , CM000681.2:g.12896003C>G	GRCh38
NC_000019.9:g.13006817C>G , CM000681.1:g.13006817C>G	GRCh37
NC_000019.8:g.12867817C>G	NCBI36
NG_009292.1:g.9844C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.517C>G MANE Select	ENSP00000222214.4:p.Leu173Val
ENST00000222214.9:c.517C>G	ENSP00000222214.4:p.Leu173Val
ENST00000421816.6:n.495C>G
ENST00000585420.5:n.882C>G
ENST00000588905.5:c.481C>G	ENSP00000465770.1:p.Leu161Val
ENST00000590530.5:c.572C>G	ENSP00000468452.1:p.Ala191Gly
ENST00000591043.1:n.553C>G
ENST00000591470.5:c.517C>G	ENSP00000466845.1:p.Leu173Val
NM_000159.3:c.517C>G	NP_000150.1:p.Leu173Val
NM_013976.3:c.517C>G	NP_039663.1:p.Leu173Val
NR_102316.1:n.680C>G
NR_102317.1:n.933C>G
XM_006722721.2:c.517C>G	XP_006722784.1:p.Leu173Val
XM_011527899.1:c.517C>G	XP_011526201.1:p.Leu173Val
XM_011527900.1:c.517C>G	XP_011526202.1:p.Leu173Val
XM_011527899.2:c.517C>G	XP_011526201.1:p.Leu173Val
XM_011527900.2:c.517C>G	XP_011526202.1:p.Leu173Val
XM_017026580.1:c.517C>G	XP_016882069.1:p.Leu173Val
NM_000159.4:c.517C>G MANE Select	NP_000150.1:p.Leu173Val
NM_013976.4:c.517C>G	NP_039663.1:p.Leu173Val
NM_013976.5:c.517C>G	NP_039663.1:p.Leu173Val