Canonical Allele Identifier: CA9234614

Gene: GCDH

Linked Data

• dbSNP Id: rs745755364
• ExAC: 19:13008536 T / G
• gnomAD v2: 19-13008536-T-G
• MyVariant Identifiers: chr19:g.13008536T>G (hg19) ; chr19:g.12897722T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897722T>G , CM000681.2:g.12897722T>G	GRCh38
NC_000019.9:g.13008536T>G , CM000681.1:g.13008536T>G	GRCh37
NC_000019.8:g.12869536T>G	NCBI36
NG_009292.1:g.11563T>G
NG_033049.1:g.26551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1102T>G MANE Select	ENSP00000222214.4:p.Ser368Ala
ENST00000222214.9:c.1102T>G	ENSP00000222214.4:p.Ser368Ala
ENST00000585420.5:n.1432T>G
ENST00000590472.5:c.146T>G
ENST00000590530.5:c.*542T>G	ENSP00000468452.1:n.*542T>G
ENST00000591043.1:n.1412T>G
ENST00000591050.1:c.69T>G
ENST00000591470.5:c.1102T>G	ENSP00000466845.1:p.Ser368Ala
NM_000159.3:c.1102T>G	NP_000150.1:p.Ser368Ala
NM_013976.3:c.1102T>G	NP_039663.1:p.Ser368Ala
NR_102316.1:n.1265T>G
NR_102317.1:n.1483T>G
XM_006722721.2:c.1102T>G	XP_006722784.1:p.Ser368Ala
XM_011527899.1:c.1102T>G	XP_011526201.1:p.Ser368Ala
XM_011527900.1:c.1102T>G	XP_011526202.1:p.Ser368Ala
XM_011527899.2:c.1102T>G	XP_011526201.1:p.Ser368Ala
XM_011527900.2:c.1102T>G	XP_011526202.1:p.Ser368Ala
XM_017026580.1:c.1102T>G	XP_016882069.1:p.Ser368Ala
NM_000159.4:c.1102T>G MANE Select	NP_000150.1:p.Ser368Ala
NM_013976.4:c.1102T>G	NP_039663.1:p.Ser368Ala
NM_013976.5:c.1102T>G	NP_039663.1:p.Ser368Ala