Canonical Allele Identifier: CA404317648

Gene: GCDH

Linked Data

• ClinVar Variation Id: 975398
• ClinVar RCV Id: RCV001252000
• dbSNP Id: rs1299348900
• gnomAD v2: 19-13004446-C-G
• gnomAD v3: 19-12893632-C-G
• gnomAD v4: 19-12893632-C-G
• MyVariant Identifiers: chr19:g.13004446C>G (hg19) ; chr19:g.12893632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893632C>G , CM000681.2:g.12893632C>G	GRCh38
NC_000019.9:g.13004446C>G , CM000681.1:g.13004446C>G	GRCh37
NC_000019.8:g.12865446C>G	NCBI36
NG_009292.1:g.7473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.484C>G MANE Select	ENSP00000222214.4:p.Gln162Glu
ENST00000222214.9:c.484C>G	ENSP00000222214.4:p.Gln162Glu
ENST00000421816.6:n.462C>G
ENST00000585420.5:n.849C>G
ENST00000587832.5:n.541C>G
ENST00000588905.5:c.448C>G	ENSP00000465770.1:p.Gln150Glu
ENST00000589039.5:c.421C>G	ENSP00000465618.1:p.Gln141Glu
ENST00000590530.5:c.539C>G	ENSP00000468452.1:p.Ala180Gly
ENST00000590627.5:n.849C>G
ENST00000591043.1:n.520C>G
ENST00000591470.5:c.484C>G	ENSP00000466845.1:p.Gln162Glu
NM_000159.3:c.484C>G	NP_000150.1:p.Gln162Glu
NM_013976.3:c.484C>G	NP_039663.1:p.Gln162Glu
NR_102316.1:n.647C>G
NR_102317.1:n.900C>G
XM_006722721.2:c.484C>G	XP_006722784.1:p.Gln162Glu
XM_011527899.1:c.484C>G	XP_011526201.1:p.Gln162Glu
XM_011527900.1:c.484C>G	XP_011526202.1:p.Gln162Glu
XM_011527899.2:c.484C>G	XP_011526201.1:p.Gln162Glu
XM_011527900.2:c.484C>G	XP_011526202.1:p.Gln162Glu
XM_017026580.1:c.484C>G	XP_016882069.1:p.Gln162Glu
NM_000159.4:c.484C>G MANE Select	NP_000150.1:p.Gln162Glu
NM_013976.4:c.484C>G	NP_039663.1:p.Gln162Glu
NM_013976.5:c.484C>G	NP_039663.1:p.Gln162Glu