Canonical Allele Identifier: CA505778843

Gene: GCDH

Linked Data

• gnomAD v4: 19-12896230-C-T
• MyVariant Identifiers: chr19:g.13007044C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896230C>T , CM000681.2:g.12896230C>T	GRCh38
NC_000019.9:g.13007044C>T , CM000681.1:g.13007044C>T	GRCh37
NC_000019.8:g.12868044C>T	NCBI36
NG_009292.1:g.10071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.661C>T MANE Select	ENSP00000222214.4:p.Leu221=
ENST00000222214.9:c.661C>T	ENSP00000222214.4:p.Leu221=
ENST00000421816.6:n.639C>T
ENST00000585420.5:n.1001-10C>T
ENST00000590530.5:c.*101C>T	ENSP00000468452.1:n.*101C>T
ENST00000591043.1:n.697C>T
ENST00000591470.5:c.661C>T	ENSP00000466845.1:p.Leu221=
NM_000159.3:c.661C>T	NP_000150.1:p.Leu221=
NM_013976.3:c.661C>T	NP_039663.1:p.Leu221=
NR_102316.1:n.824C>T
NR_102317.1:n.1052-10C>T
XM_006722721.2:c.661C>T	XP_006722784.1:p.Leu221=
XM_011527899.1:c.661C>T	XP_011526201.1:p.Leu221=
XM_011527900.1:c.661C>T	XP_011526202.1:p.Leu221=
XM_011527899.2:c.661C>T	XP_011526201.1:p.Leu221=
XM_011527900.2:c.661C>T	XP_011526202.1:p.Leu221=
XM_017026580.1:c.661C>T	XP_016882069.1:p.Leu221=
NM_000159.4:c.661C>T MANE Select	NP_000150.1:p.Leu221=
NM_013976.4:c.661C>T	NP_039663.1:p.Leu221=
NM_013976.5:c.661C>T	NP_039663.1:p.Leu221=