Canonical Allele Identifier: CA404318819

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1304015
• ClinVar RCV Id: RCV001758308 ; RCV004526141
• dbSNP Id: rs2145951275
• MyVariant Identifiers: chr19:g.13007132T>C (hg19) ; chr19:g.12896318T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896318T>C , CM000681.2:g.12896318T>C	GRCh38
NC_000019.9:g.13007132T>C , CM000681.1:g.13007132T>C	GRCh37
NC_000019.8:g.12868132T>C	NCBI36
NG_009292.1:g.10159T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.749T>C MANE Select	ENSP00000222214.4:p.Ile250Thr
ENST00000222214.9:c.749T>C	ENSP00000222214.4:p.Ile250Thr
ENST00000421816.6:n.727T>C
ENST00000585420.5:n.1079T>C
ENST00000590530.5:c.*189T>C	ENSP00000468452.1:n.*189T>C
ENST00000591043.1:n.785T>C
ENST00000591470.5:c.749T>C	ENSP00000466845.1:p.Ile250Thr
NM_000159.3:c.749T>C	NP_000150.1:p.Ile250Thr
NM_013976.3:c.749T>C	NP_039663.1:p.Ile250Thr
NR_102316.1:n.912T>C
NR_102317.1:n.1130T>C
XM_006722721.2:c.749T>C	XP_006722784.1:p.Ile250Thr
XM_011527899.1:c.749T>C	XP_011526201.1:p.Ile250Thr
XM_011527900.1:c.749T>C	XP_011526202.1:p.Ile250Thr
XM_011527899.2:c.749T>C	XP_011526201.1:p.Ile250Thr
XM_011527900.2:c.749T>C	XP_011526202.1:p.Ile250Thr
XM_017026580.1:c.749T>C	XP_016882069.1:p.Ile250Thr
NM_000159.4:c.749T>C MANE Select	NP_000150.1:p.Ile250Thr
NM_013976.4:c.749T>C	NP_039663.1:p.Ile250Thr
NM_013976.5:c.749T>C	NP_039663.1:p.Ile250Thr