Canonical Allele Identifier: CA404317641

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13004442G>C (hg19) ; chr19:g.12893628G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893628G>C , CM000681.2:g.12893628G>C	GRCh38
NC_000019.9:g.13004442G>C , CM000681.1:g.13004442G>C	GRCh37
NC_000019.8:g.12865442G>C	NCBI36
NG_009292.1:g.7469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.480G>C MANE Select	ENSP00000222214.4:p.Gln160His
ENST00000222214.9:c.480G>C	ENSP00000222214.4:p.Gln160His
ENST00000421816.6:n.458G>C
ENST00000585420.5:n.845G>C
ENST00000587832.5:n.537G>C
ENST00000588905.5:c.444G>C	ENSP00000465770.1:p.Gln148His
ENST00000589039.5:c.417G>C	ENSP00000465618.1:p.Gln139His
ENST00000590530.5:c.535G>C	ENSP00000468452.1:p.Ala179Pro
ENST00000590627.5:n.845G>C
ENST00000591043.1:n.516G>C
ENST00000591470.5:c.480G>C	ENSP00000466845.1:p.Gln160His
NM_000159.3:c.480G>C	NP_000150.1:p.Gln160His
NM_013976.3:c.480G>C	NP_039663.1:p.Gln160His
NR_102316.1:n.643G>C
NR_102317.1:n.896G>C
XM_006722721.2:c.480G>C	XP_006722784.1:p.Gln160His
XM_011527899.1:c.480G>C	XP_011526201.1:p.Gln160His
XM_011527900.1:c.480G>C	XP_011526202.1:p.Gln160His
XM_011527899.2:c.480G>C	XP_011526201.1:p.Gln160His
XM_011527900.2:c.480G>C	XP_011526202.1:p.Gln160His
XM_017026580.1:c.480G>C	XP_016882069.1:p.Gln160His
NM_000159.4:c.480G>C MANE Select	NP_000150.1:p.Gln160His
NM_013976.4:c.480G>C	NP_039663.1:p.Gln160His
NM_013976.5:c.480G>C	NP_039663.1:p.Gln160His