Canonical Allele Identifier: CA404318723

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13007102A>C (hg19) ; chr19:g.12896288A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896288A>C , CM000681.2:g.12896288A>C	GRCh38
NC_000019.9:g.13007102A>C , CM000681.1:g.13007102A>C	GRCh37
NC_000019.8:g.12868102A>C	NCBI36
NG_009292.1:g.10129A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.719A>C MANE Select	ENSP00000222214.4:p.Lys240Thr
ENST00000222214.9:c.719A>C	ENSP00000222214.4:p.Lys240Thr
ENST00000421816.6:n.697A>C
ENST00000585420.5:n.1049A>C
ENST00000590530.5:c.*159A>C	ENSP00000468452.1:n.*159A>C
ENST00000591043.1:n.755A>C
ENST00000591470.5:c.719A>C	ENSP00000466845.1:p.Lys240Thr
NM_000159.3:c.719A>C	NP_000150.1:p.Lys240Thr
NM_013976.3:c.719A>C	NP_039663.1:p.Lys240Thr
NR_102316.1:n.882A>C
NR_102317.1:n.1100A>C
XM_006722721.2:c.719A>C	XP_006722784.1:p.Lys240Thr
XM_011527899.1:c.719A>C	XP_011526201.1:p.Lys240Thr
XM_011527900.1:c.719A>C	XP_011526202.1:p.Lys240Thr
XM_011527899.2:c.719A>C	XP_011526201.1:p.Lys240Thr
XM_011527900.2:c.719A>C	XP_011526202.1:p.Lys240Thr
XM_017026580.1:c.719A>C	XP_016882069.1:p.Lys240Thr
NM_000159.4:c.719A>C MANE Select	NP_000150.1:p.Lys240Thr
NM_013976.4:c.719A>C	NP_039663.1:p.Lys240Thr
NM_013976.5:c.719A>C	NP_039663.1:p.Lys240Thr