Canonical Allele Identifier: CA9234394

Gene: GCDH

Linked Data

• ClinVar Variation Id: 328329
• ClinVar RCV Id: RCV001087940 ; RCV000735103 ; RCV003168488
• dbSNP Id: rs146682905
• ExAC: 19:13004433 C / T
• gnomAD v2: 19-13004433-C-T
• gnomAD v3: 19-12893619-C-T
• gnomAD v4: 19-12893619-C-T
• MyVariant Identifiers: chr19:g.13004433C>T (hg19) ; chr19:g.12893619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893619C>T , CM000681.2:g.12893619C>T	GRCh38
NC_000019.9:g.13004433C>T , CM000681.1:g.13004433C>T	GRCh37
NC_000019.8:g.12865433C>T	NCBI36
NG_009292.1:g.7460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.471C>T MANE Select	ENSP00000222214.4:p.Ser157=
ENST00000222214.9:c.471C>T	ENSP00000222214.4:p.Ser157=
ENST00000421816.6:n.449C>T
ENST00000585420.5:n.836C>T
ENST00000587832.5:n.528C>T
ENST00000588905.5:c.435C>T	ENSP00000465770.1:p.Ser145=
ENST00000589039.5:c.408C>T	ENSP00000465618.1:p.Ser136=
ENST00000590530.5:c.526C>T	ENSP00000468452.1:p.Arg176Ter
ENST00000590627.5:n.836C>T
ENST00000591043.1:n.507C>T
ENST00000591470.5:c.471C>T	ENSP00000466845.1:p.Ser157=
NM_000159.3:c.471C>T	NP_000150.1:p.Ser157=
NM_013976.3:c.471C>T	NP_039663.1:p.Ser157=
NR_102316.1:n.634C>T
NR_102317.1:n.887C>T
XM_006722721.2:c.471C>T	XP_006722784.1:p.Ser157=
XM_011527899.1:c.471C>T	XP_011526201.1:p.Ser157=
XM_011527900.1:c.471C>T	XP_011526202.1:p.Ser157=
XM_011527899.2:c.471C>T	XP_011526201.1:p.Ser157=
XM_011527900.2:c.471C>T	XP_011526202.1:p.Ser157=
XM_017026580.1:c.471C>T	XP_016882069.1:p.Ser157=
NM_000159.4:c.471C>T MANE Select	NP_000150.1:p.Ser157=
NM_013976.4:c.471C>T	NP_039663.1:p.Ser157=
NM_013976.5:c.471C>T	NP_039663.1:p.Ser157=