Canonical Allele Identifier: CA16041967

Gene: GCDH

Linked Data

• ClinVar Variation Id: 370280
• ClinVar RCV Id: RCV000412155
• dbSNP Id: rs768836114
• MyVariant Identifiers: chr19:g.13004301T>G (hg19) ; chr19:g.12893487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893487T>G , CM000681.2:g.12893487T>G	GRCh38
NC_000019.9:g.13004301T>G , CM000681.1:g.13004301T>G	GRCh37
NC_000019.8:g.12865301T>G	NCBI36
NG_009292.1:g.7328T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.339T>G MANE Select	ENSP00000222214.4:p.Tyr113Ter
ENST00000222214.9:c.339T>G	ENSP00000222214.4:p.Tyr113Ter
ENST00000421816.6:n.317T>G
ENST00000585420.5:n.704T>G
ENST00000587072.1:c.387T>G	ENSP00000468584.1:p.Tyr129Ter
ENST00000587832.5:n.396T>G
ENST00000588905.5:c.303T>G	ENSP00000465770.1:p.Tyr101Ter
ENST00000589039.5:c.276T>G	ENSP00000465618.1:p.Tyr92Ter
ENST00000590530.5:c.394T>G	ENSP00000468452.1:p.Trp132Gly
ENST00000590627.5:n.704T>G
ENST00000591043.1:n.375T>G
ENST00000591470.5:c.339T>G	ENSP00000466845.1:p.Tyr113Ter
NM_000159.3:c.339T>G	NP_000150.1:p.Tyr113Ter
NM_013976.3:c.339T>G	NP_039663.1:p.Tyr113Ter
NR_102316.1:n.502T>G
NR_102317.1:n.755T>G
XM_006722721.2:c.339T>G	XP_006722784.1:p.Tyr113Ter
XM_011527899.1:c.339T>G	XP_011526201.1:p.Tyr113Ter
XM_011527900.1:c.339T>G	XP_011526202.1:p.Tyr113Ter
XM_011527899.2:c.339T>G	XP_011526201.1:p.Tyr113Ter
XM_011527900.2:c.339T>G	XP_011526202.1:p.Tyr113Ter
XM_017026580.1:c.339T>G	XP_016882069.1:p.Tyr113Ter
NM_000159.4:c.339T>G MANE Select	NP_000150.1:p.Tyr113Ter
NM_013976.4:c.339T>G	NP_039663.1:p.Tyr113Ter
NM_013976.5:c.339T>G	NP_039663.1:p.Tyr113Ter