Canonical Allele Identifier: CA404315084

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1372552
• ClinVar RCV Id: RCV001873063
• dbSNP Id: rs1275589130
• gnomAD v4: 19-12891896-A-C
• MyVariant Identifiers: chr19:g.13002710A>C (hg19) ; chr19:g.12891896A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891896A>C , CM000681.2:g.12891896A>C	GRCh38
NC_000019.9:g.13002710A>C , CM000681.1:g.13002710A>C	GRCh37
NC_000019.8:g.12863710A>C	NCBI36
NG_009292.1:g.5737A>C
NG_013087.1:g.308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.193A>C MANE Select	ENSP00000222214.4:p.Ile65Leu
ENST00000222214.9:c.193A>C	ENSP00000222214.4:p.Ile65Leu
ENST00000421816.6:n.234A>C
ENST00000585420.5:n.558A>C
ENST00000585760.5:n.229A>C
ENST00000587072.1:c.193A>C	ENSP00000468584.1:p.Ile65Leu
ENST00000587832.5:n.250A>C
ENST00000588905.5:c.157A>C	ENSP00000465770.1:p.Ile53Leu
ENST00000589039.5:c.193A>C	ENSP00000465618.1:p.Ile65Leu
ENST00000590445.5:c.*70A>C	ENSP00000468125.1:n.*70A>C
ENST00000590530.5:c.193A>C	ENSP00000468452.1:p.Ile65Leu
ENST00000590627.5:n.558A>C
ENST00000591043.1:n.229A>C
ENST00000591470.5:c.193A>C	ENSP00000466845.1:p.Ile65Leu
NM_000159.3:c.193A>C	NP_000150.1:p.Ile65Leu
NM_013976.3:c.193A>C	NP_039663.1:p.Ile65Leu
NR_102316.1:n.301A>C
NR_102317.1:n.609A>C
XM_006722721.2:c.193A>C	XP_006722784.1:p.Ile65Leu
XM_011527899.1:c.193A>C	XP_011526201.1:p.Ile65Leu
XM_011527900.1:c.193A>C	XP_011526202.1:p.Ile65Leu
XM_011527899.2:c.193A>C	XP_011526201.1:p.Ile65Leu
XM_011527900.2:c.193A>C	XP_011526202.1:p.Ile65Leu
XM_017026580.1:c.193A>C	XP_016882069.1:p.Ile65Leu
NM_000159.4:c.193A>C MANE Select	NP_000150.1:p.Ile65Leu
NM_013976.4:c.193A>C	NP_039663.1:p.Ile65Leu
NM_013976.5:c.193A>C	NP_039663.1:p.Ile65Leu