Canonical Allele Identifier: CA9234418

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12895996G>T , CM000681.2:g.12895996G>T	GRCh38
NC_000019.9:g.13006810G>T , CM000681.1:g.13006810G>T	GRCh37
NC_000019.8:g.12867810G>T	NCBI36
NG_009292.1:g.9837G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.510G>T MANE Select	NP_000150.1:p.Lys170Asn
ENST00000222214.10:c.510G>T MANE Select	ENSP00000222214.4:p.Lys170Asn
NM_000159.3:c.510G>T	NP_000150.1:p.Lys170Asn
NM_013976.3:c.510G>T	NP_039663.1:p.Lys170Asn
NM_013976.4:c.510G>T	NP_039663.1:p.Lys170Asn
NM_013976.5:c.510G>T	NP_039663.1:p.Lys170Asn
NR_102316.1:n.673G>T
NR_102317.1:n.926G>T
ENST00000222214.9:c.510G>T	ENSP00000222214.4:p.Lys170Asn
ENST00000421816.6:n.488G>T
ENST00000585420.5:n.875G>T
ENST00000588905.5:c.474G>T	ENSP00000465770.1:p.Lys158Asn
ENST00000590530.5:c.565G>T	ENSP00000468452.1:p.Gly189Trp
ENST00000591043.1:n.546G>T
ENST00000591470.5:c.510G>T	ENSP00000466845.1:p.Lys170Asn
XM_006722721.2:c.510G>T	XP_006722784.1:p.Lys170Asn
XM_011527899.1:c.510G>T	XP_011526201.1:p.Lys170Asn
XM_011527899.2:c.510G>T	XP_011526201.1:p.Lys170Asn
XM_011527900.1:c.510G>T	XP_011526202.1:p.Lys170Asn
XM_011527900.2:c.510G>T	XP_011526202.1:p.Lys170Asn
XM_017026580.1:c.510G>T	XP_016882069.1:p.Lys170Asn