Canonical Allele Identifier: CA9234424

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896021C>T , CM000681.2:g.12896021C>T	GRCh38
NC_000019.9:g.13006835C>T , CM000681.1:g.13006835C>T	GRCh37
NC_000019.8:g.12867835C>T	NCBI36
NG_009292.1:g.9862C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.535C>T MANE Select	NP_000150.1:p.Leu179Phe
ENST00000222214.10:c.535C>T MANE Select	ENSP00000222214.4:p.Leu179Phe
NM_000159.3:c.535C>T	NP_000150.1:p.Leu179Phe
NM_013976.3:c.535C>T	NP_039663.1:p.Leu179Phe
NM_013976.4:c.535C>T	NP_039663.1:p.Leu179Phe
NM_013976.5:c.535C>T	NP_039663.1:p.Leu179Phe
NR_102316.1:n.698C>T
NR_102317.1:n.951C>T
ENST00000222214.9:c.535C>T	ENSP00000222214.4:p.Leu179Phe
ENST00000421816.6:n.513C>T
ENST00000585420.5:n.900C>T
ENST00000590530.5:c.590C>T	ENSP00000468452.1:p.Ala197Val
ENST00000591043.1:n.571C>T
ENST00000591470.5:c.535C>T	ENSP00000466845.1:p.Leu179Phe
XM_006722721.2:c.535C>T	XP_006722784.1:p.Leu179Phe
XM_011527899.1:c.535C>T	XP_011526201.1:p.Leu179Phe
XM_011527899.2:c.535C>T	XP_011526201.1:p.Leu179Phe
XM_011527900.1:c.535C>T	XP_011526202.1:p.Leu179Phe
XM_011527900.2:c.535C>T	XP_011526202.1:p.Leu179Phe
XM_017026580.1:c.535C>T	XP_016882069.1:p.Leu179Phe