Canonical Allele Identifier: CA505648156

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13006820C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896006C>T , CM000681.2:g.12896006C>T	GRCh38
NC_000019.9:g.13006820C>T , CM000681.1:g.13006820C>T	GRCh37
NC_000019.8:g.12867820C>T	NCBI36
NG_009292.1:g.9847C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.520C>T MANE Select	ENSP00000222214.4:p.Leu174=
ENST00000222214.9:c.520C>T	ENSP00000222214.4:p.Leu174=
ENST00000421816.6:n.498C>T
ENST00000585420.5:n.885C>T
ENST00000588905.5:c.484C>T	ENSP00000465770.1:p.Leu162=
ENST00000590530.5:c.575C>T	ENSP00000468452.1:p.Pro192Leu
ENST00000591043.1:n.556C>T
ENST00000591470.5:c.520C>T	ENSP00000466845.1:p.Leu174=
NM_000159.3:c.520C>T	NP_000150.1:p.Leu174=
NM_013976.3:c.520C>T	NP_039663.1:p.Leu174=
NR_102316.1:n.683C>T
NR_102317.1:n.936C>T
XM_006722721.2:c.520C>T	XP_006722784.1:p.Leu174=
XM_011527899.1:c.520C>T	XP_011526201.1:p.Leu174=
XM_011527900.1:c.520C>T	XP_011526202.1:p.Leu174=
XM_011527899.2:c.520C>T	XP_011526201.1:p.Leu174=
XM_011527900.2:c.520C>T	XP_011526202.1:p.Leu174=
XM_017026580.1:c.520C>T	XP_016882069.1:p.Leu174=
NM_000159.4:c.520C>T MANE Select	NP_000150.1:p.Leu174=
NM_013976.4:c.520C>T	NP_039663.1:p.Leu174=
NM_013976.5:c.520C>T	NP_039663.1:p.Leu174=