Canonical Allele Identifier: CA220436

Gene: GCDH

Linked Data

• ClinVar Variation Id: 92532
• ClinVar RCV Id: RCV003162507
• dbSNP Id: rs398123193
• MyVariant Identifiers: chr19:g.13006817C>T (hg19) ; chr19:g.12896003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896003C>T , CM000681.2:g.12896003C>T	GRCh38
NC_000019.9:g.13006817C>T , CM000681.1:g.13006817C>T	GRCh37
NC_000019.8:g.12867817C>T	NCBI36
NG_009292.1:g.9844C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.517C>T MANE Select	ENSP00000222214.4:p.Leu173Phe
ENST00000222214.9:c.517C>T	ENSP00000222214.4:p.Leu173Phe
ENST00000421816.6:n.495C>T
ENST00000585420.5:n.882C>T
ENST00000588905.5:c.481C>T	ENSP00000465770.1:p.Leu161Phe
ENST00000590530.5:c.572C>T	ENSP00000468452.1:p.Ala191Val
ENST00000591043.1:n.553C>T
ENST00000591470.5:c.517C>T	ENSP00000466845.1:p.Leu173Phe
NM_000159.3:c.517C>T	NP_000150.1:p.Leu173Phe
NM_013976.3:c.517C>T	NP_039663.1:p.Leu173Phe
NR_102316.1:n.680C>T
NR_102317.1:n.933C>T
XM_006722721.2:c.517C>T	XP_006722784.1:p.Leu173Phe
XM_011527899.1:c.517C>T	XP_011526201.1:p.Leu173Phe
XM_011527900.1:c.517C>T	XP_011526202.1:p.Leu173Phe
XM_011527899.2:c.517C>T	XP_011526201.1:p.Leu173Phe
XM_011527900.2:c.517C>T	XP_011526202.1:p.Leu173Phe
XM_017026580.1:c.517C>T	XP_016882069.1:p.Leu173Phe
NM_000159.4:c.517C>T MANE Select	NP_000150.1:p.Leu173Phe
NM_013976.4:c.517C>T	NP_039663.1:p.Leu173Phe
NM_013976.5:c.517C>T	NP_039663.1:p.Leu173Phe