Canonical Allele Identifier: CA2580096510

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2415198
• ClinVar RCV Id: RCV003110617

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896062_12896063delinsAC , CM000681.2:g.12896062_12896063delinsAC	GRCh38
NC_000019.9:g.13006876_13006877delinsAC , CM000681.1:g.13006876_13006877delinsAC	GRCh37
NC_000019.8:g.12867876_12867877delinsAC	NCBI36
NG_009292.1:g.9903_9904delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.576_577delinsAC MANE Select	ENSP00000222214.4:p.Thr193Pro
ENST00000222214.9:c.576_577delinsAC	ENSP00000222214.4:p.Thr193Pro
ENST00000421816.6:n.554_555delinsAC
ENST00000585420.5:n.941_942delinsAC
ENST00000590530.5:c.*16_*17delinsAC	ENSP00000468452.1:n.*16_*17delinsAC
ENST00000591043.1:n.612_613delinsAC
ENST00000591470.5:c.576_577delinsAC	ENSP00000466845.1:p.Thr193Pro
NM_000159.3:c.576_577delinsAC	NP_000150.1:p.Thr193Pro
NM_013976.3:c.576_577delinsAC	NP_039663.1:p.Thr193Pro
NR_102316.1:n.739_740delinsAC
NR_102317.1:n.992_993delinsAC
XM_006722721.2:c.576_577delinsAC	XP_006722784.1:p.Thr193Pro
XM_011527899.1:c.576_577delinsAC	XP_011526201.1:p.Thr193Pro
XM_011527900.1:c.576_577delinsAC	XP_011526202.1:p.Thr193Pro
XM_011527899.2:c.576_577delinsAC	XP_011526201.1:p.Thr193Pro
XM_011527900.2:c.576_577delinsAC	XP_011526202.1:p.Thr193Pro
XM_017026580.1:c.576_577delinsAC	XP_016882069.1:p.Thr193Pro
NM_000159.4:c.576_577delinsAC MANE Select	NP_000150.1:p.Thr193Pro
NM_013976.4:c.576_577delinsAC	NP_039663.1:p.Thr193Pro
NM_013976.5:c.576_577delinsAC	NP_039663.1:p.Thr193Pro