Canonical Allele Identifier: CA351605

Gene: GCDH

Linked Data

• ClinVar Variation Id: 221907
• ClinVar RCV Id: RCV000207408
• dbSNP Id: rs869025299
• MyVariant Identifiers: chr19:g.13008191C>T (hg19) ; chr19:g.12897377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897377C>T , CM000681.2:g.12897377C>T	GRCh38
NC_000019.9:g.13008191C>T , CM000681.1:g.13008191C>T	GRCh37
NC_000019.8:g.12869191C>T	NCBI36
NG_009292.1:g.11218C>T
NG_033049.1:g.26896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1031C>T MANE Select	ENSP00000222214.4:p.Thr344Ile
ENST00000222214.9:c.1031C>T	ENSP00000222214.4:p.Thr344Ile
ENST00000421816.6:n.1009C>T
ENST00000585420.5:n.1361C>T
ENST00000590472.5:c.75C>T
ENST00000590530.5:c.*471C>T	ENSP00000468452.1:n.*471C>T
ENST00000591043.1:n.1067C>T
ENST00000591470.5:c.1031C>T	ENSP00000466845.1:p.Thr344Ile
NM_000159.3:c.1031C>T	NP_000150.1:p.Thr344Ile
NM_013976.3:c.1031C>T	NP_039663.1:p.Thr344Ile
NR_102316.1:n.1194C>T
NR_102317.1:n.1412C>T
XM_006722721.2:c.1031C>T	XP_006722784.1:p.Thr344Ile
XM_011527899.1:c.1031C>T	XP_011526201.1:p.Thr344Ile
XM_011527900.1:c.1031C>T	XP_011526202.1:p.Thr344Ile
XM_011527899.2:c.1031C>T	XP_011526201.1:p.Thr344Ile
XM_011527900.2:c.1031C>T	XP_011526202.1:p.Thr344Ile
XM_017026580.1:c.1031C>T	XP_016882069.1:p.Thr344Ile
NM_000159.4:c.1031C>T MANE Select	NP_000150.1:p.Thr344Ile
NM_013976.4:c.1031C>T	NP_039663.1:p.Thr344Ile
NM_013976.5:c.1031C>T	NP_039663.1:p.Thr344Ile