Canonical Allele Identifier: CA505649542

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1103524
• ClinVar RCV Id: RCV001427229
• dbSNP Id: rs2145954850
• MyVariant Identifiers: chr19:g.13008547G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897733G>A , CM000681.2:g.12897733G>A	GRCh38
NC_000019.9:g.13008547G>A , CM000681.1:g.13008547G>A	GRCh37
NC_000019.8:g.12869547G>A	NCBI36
NG_009292.1:g.11574G>A
NG_033049.1:g.26540C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1113G>A MANE Select	ENSP00000222214.4:p.Lys371=
ENST00000222214.9:c.1113G>A	ENSP00000222214.4:p.Lys371=
ENST00000585420.5:n.1443G>A
ENST00000590472.5:c.157G>A
ENST00000590530.5:c.*553G>A	ENSP00000468452.1:n.*553G>A
ENST00000591043.1:n.1423G>A
ENST00000591050.1:c.80G>A
ENST00000591470.5:c.1113G>A	ENSP00000466845.1:p.Lys371=
NM_000159.3:c.1113G>A	NP_000150.1:p.Lys371=
NM_013976.3:c.1113G>A	NP_039663.1:p.Lys371=
NR_102316.1:n.1276G>A
NR_102317.1:n.1494G>A
XM_006722721.2:c.1113G>A	XP_006722784.1:p.Lys371=
XM_011527899.1:c.1113G>A	XP_011526201.1:p.Lys371=
XM_011527900.1:c.1113G>A	XP_011526202.1:p.Lys371=
XM_011527899.2:c.1113G>A	XP_011526201.1:p.Lys371=
XM_011527900.2:c.1113G>A	XP_011526202.1:p.Lys371=
XM_017026580.1:c.1113G>A	XP_016882069.1:p.Lys371=
NM_000159.4:c.1113G>A MANE Select	NP_000150.1:p.Lys371=
NM_013976.4:c.1113G>A	NP_039663.1:p.Lys371=
NM_013976.5:c.1113G>A	NP_039663.1:p.Lys371=