Canonical Allele Identifier: CA9234379

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893516A>G , CM000681.2:g.12893516A>G	GRCh38
NC_000019.9:g.13004330A>G , CM000681.1:g.13004330A>G	GRCh37
NC_000019.8:g.12865330A>G	NCBI36
NG_009292.1:g.7357A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.368A>G MANE Select	NP_000150.1:p.Tyr123Cys
ENST00000222214.10:c.368A>G MANE Select	ENSP00000222214.4:p.Tyr123Cys
NM_000159.3:c.368A>G	NP_000150.1:p.Tyr123Cys
NM_013976.3:c.368A>G	NP_039663.1:p.Tyr123Cys
NM_013976.4:c.368A>G	NP_039663.1:p.Tyr123Cys
NM_013976.5:c.368A>G	NP_039663.1:p.Tyr123Cys
NR_102316.1:n.531A>G
NR_102317.1:n.784A>G
ENST00000222214.9:c.368A>G	ENSP00000222214.4:p.Tyr123Cys
ENST00000421816.6:n.346A>G
ENST00000585420.5:n.733A>G
ENST00000587832.5:n.425A>G
ENST00000588905.5:c.332A>G	ENSP00000465770.1:p.Tyr111Cys
ENST00000589039.5:c.305A>G	ENSP00000465618.1:p.Tyr102Cys
ENST00000590530.5:c.423A>G	ENSP00000468452.1:p.Leu141=
ENST00000590627.5:n.733A>G
ENST00000591043.1:n.404A>G
ENST00000591470.5:c.368A>G	ENSP00000466845.1:p.Tyr123Cys
XM_006722721.2:c.368A>G	XP_006722784.1:p.Tyr123Cys
XM_011527899.1:c.368A>G	XP_011526201.1:p.Tyr123Cys
XM_011527899.2:c.368A>G	XP_011526201.1:p.Tyr123Cys
XM_011527900.1:c.368A>G	XP_011526202.1:p.Tyr123Cys
XM_011527900.2:c.368A>G	XP_011526202.1:p.Tyr123Cys
XM_017026580.1:c.368A>G	XP_016882069.1:p.Tyr123Cys