Canonical Allele Identifier: CA404317636

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13004440C>A (hg19) ; chr19:g.12893626C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893626C>A , CM000681.2:g.12893626C>A	GRCh38
NC_000019.9:g.13004440C>A , CM000681.1:g.13004440C>A	GRCh37
NC_000019.8:g.12865440C>A	NCBI36
NG_009292.1:g.7467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.478C>A MANE Select	ENSP00000222214.4:p.Gln160Lys
ENST00000222214.9:c.478C>A	ENSP00000222214.4:p.Gln160Lys
ENST00000421816.6:n.456C>A
ENST00000585420.5:n.843C>A
ENST00000587832.5:n.535C>A
ENST00000588905.5:c.442C>A	ENSP00000465770.1:p.Gln148Lys
ENST00000589039.5:c.415C>A	ENSP00000465618.1:p.Gln139Lys
ENST00000590530.5:c.533C>A	ENSP00000468452.1:p.Thr178Lys
ENST00000590627.5:n.843C>A
ENST00000591043.1:n.514C>A
ENST00000591470.5:c.478C>A	ENSP00000466845.1:p.Gln160Lys
NM_000159.3:c.478C>A	NP_000150.1:p.Gln160Lys
NM_013976.3:c.478C>A	NP_039663.1:p.Gln160Lys
NR_102316.1:n.641C>A
NR_102317.1:n.894C>A
XM_006722721.2:c.478C>A	XP_006722784.1:p.Gln160Lys
XM_011527899.1:c.478C>A	XP_011526201.1:p.Gln160Lys
XM_011527900.1:c.478C>A	XP_011526202.1:p.Gln160Lys
XM_011527899.2:c.478C>A	XP_011526201.1:p.Gln160Lys
XM_011527900.2:c.478C>A	XP_011526202.1:p.Gln160Lys
XM_017026580.1:c.478C>A	XP_016882069.1:p.Gln160Lys
NM_000159.4:c.478C>A MANE Select	NP_000150.1:p.Gln160Lys
NM_013976.4:c.478C>A	NP_039663.1:p.Gln160Lys
NM_013976.5:c.478C>A	NP_039663.1:p.Gln160Lys