Canonical Allele Identifier: CA404318600

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1498017
• ClinVar RCV Id: RCV001996365
• dbSNP Id: rs121434373
• gnomAD v4: 19-12896249-G-T
• MyVariant Identifiers: chr19:g.13007063G>T (hg19) ; chr19:g.12896249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896249G>T , CM000681.2:g.12896249G>T	GRCh38
NC_000019.9:g.13007063G>T , CM000681.1:g.13007063G>T	GRCh37
NC_000019.8:g.12868063G>T	NCBI36
NG_009292.1:g.10090G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.680G>T MANE Select	ENSP00000222214.4:p.Arg227Leu
ENST00000222214.9:c.680G>T	ENSP00000222214.4:p.Arg227Leu
ENST00000421816.6:n.658G>T
ENST00000585420.5:n.1010G>T
ENST00000590530.5:c.*120G>T	ENSP00000468452.1:n.*120G>T
ENST00000591043.1:n.716G>T
ENST00000591470.5:c.680G>T	ENSP00000466845.1:p.Arg227Leu
NM_000159.3:c.680G>T	NP_000150.1:p.Arg227Leu
NM_013976.3:c.680G>T	NP_039663.1:p.Arg227Leu
NR_102316.1:n.843G>T
NR_102317.1:n.1061G>T
XM_006722721.2:c.680G>T	XP_006722784.1:p.Arg227Leu
XM_011527899.1:c.680G>T	XP_011526201.1:p.Arg227Leu
XM_011527900.1:c.680G>T	XP_011526202.1:p.Arg227Leu
XM_011527899.2:c.680G>T	XP_011526201.1:p.Arg227Leu
XM_011527900.2:c.680G>T	XP_011526202.1:p.Arg227Leu
XM_017026580.1:c.680G>T	XP_016882069.1:p.Arg227Leu
NM_000159.4:c.680G>T MANE Select	NP_000150.1:p.Arg227Leu
NM_013976.4:c.680G>T	NP_039663.1:p.Arg227Leu
NM_013976.5:c.680G>T	NP_039663.1:p.Arg227Leu