Canonical Allele Identifier: CA505648161

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13006822G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896008G>T , CM000681.2:g.12896008G>T	GRCh38
NC_000019.9:g.13006822G>T , CM000681.1:g.13006822G>T	GRCh37
NC_000019.8:g.12867822G>T	NCBI36
NG_009292.1:g.9849G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.522G>T MANE Select	ENSP00000222214.4:p.Leu174=
ENST00000222214.9:c.522G>T	ENSP00000222214.4:p.Leu174=
ENST00000421816.6:n.500G>T
ENST00000585420.5:n.887G>T
ENST00000588905.5:c.486G>T	ENSP00000465770.1:p.Leu162=
ENST00000590530.5:c.577G>T	ENSP00000468452.1:p.Gly193Trp
ENST00000591043.1:n.558G>T
ENST00000591470.5:c.522G>T	ENSP00000466845.1:p.Leu174=
NM_000159.3:c.522G>T	NP_000150.1:p.Leu174=
NM_013976.3:c.522G>T	NP_039663.1:p.Leu174=
NR_102316.1:n.685G>T
NR_102317.1:n.938G>T
XM_006722721.2:c.522G>T	XP_006722784.1:p.Leu174=
XM_011527899.1:c.522G>T	XP_011526201.1:p.Leu174=
XM_011527900.1:c.522G>T	XP_011526202.1:p.Leu174=
XM_011527899.2:c.522G>T	XP_011526201.1:p.Leu174=
XM_011527900.2:c.522G>T	XP_011526202.1:p.Leu174=
XM_017026580.1:c.522G>T	XP_016882069.1:p.Leu174=
NM_000159.4:c.522G>T MANE Select	NP_000150.1:p.Leu174=
NM_013976.4:c.522G>T	NP_039663.1:p.Leu174=
NM_013976.5:c.522G>T	NP_039663.1:p.Leu174=