Canonical Allele Identifier: CA404319365

Gene: GCDH

Linked Data

• ClinVar Variation Id: 529447
• ClinVar RCV Id: RCV000634890
• dbSNP Id: rs775606471
• MyVariant Identifiers: chr19:g.13007752G>T (hg19) ; chr19:g.12896938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896938G>T , CM000681.2:g.12896938G>T	GRCh38
NC_000019.9:g.13007752G>T , CM000681.1:g.13007752G>T	GRCh37
NC_000019.8:g.12868752G>T	NCBI36
NG_009292.1:g.10779G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.881G>T MANE Select	ENSP00000222214.4:p.Arg294Leu
ENST00000222214.9:c.881G>T	ENSP00000222214.4:p.Arg294Leu
ENST00000421816.6:n.859G>T
ENST00000585420.5:n.1211G>T
ENST00000590530.5:c.*321G>T	ENSP00000468452.1:n.*321G>T
ENST00000591043.1:n.917G>T
ENST00000591470.5:c.881G>T	ENSP00000466845.1:p.Arg294Leu
NM_000159.3:c.881G>T	NP_000150.1:p.Arg294Leu
NM_013976.3:c.881G>T	NP_039663.1:p.Arg294Leu
NR_102316.1:n.1044G>T
NR_102317.1:n.1262G>T
XM_006722721.2:c.881G>T	XP_006722784.1:p.Arg294Leu
XM_011527899.1:c.881G>T	XP_011526201.1:p.Arg294Leu
XM_011527900.1:c.881G>T	XP_011526202.1:p.Arg294Leu
XM_011527899.2:c.881G>T	XP_011526201.1:p.Arg294Leu
XM_011527900.2:c.881G>T	XP_011526202.1:p.Arg294Leu
XM_017026580.1:c.881G>T	XP_016882069.1:p.Arg294Leu
NM_000159.4:c.881G>T MANE Select	NP_000150.1:p.Arg294Leu
NM_013976.4:c.881G>T	NP_039663.1:p.Arg294Leu
NM_013976.5:c.881G>T	NP_039663.1:p.Arg294Leu