Canonical Allele Identifier: CA274339

Gene: GCDH

Linked Data

• ClinVar Variation Id: 189066
• ClinVar RCV Id: RCV000169467 ; RCV003416053
• dbSNP Id: rs776082304
• MyVariant Identifiers: chr19:g.13008673C>A (hg19) ; chr19:g.12897859C>A (hg38)
• PubMed: PMID:8541831 ; PMID:10699052 ; PMID:11508549 ; PMID:19433437

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897859C>A , CM000681.2:g.12897859C>A	GRCh38
NC_000019.9:g.13008673C>A , CM000681.1:g.13008673C>A	GRCh37
NC_000019.8:g.12869673C>A	NCBI36
NG_009292.1:g.11700C>A
NG_033049.1:g.26414G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1239C>A MANE Select	ENSP00000222214.4:p.Tyr413Ter
ENST00000222214.9:c.1239C>A	ENSP00000222214.4:p.Tyr413Ter
ENST00000585420.5:n.1569C>A
ENST00000590472.5:c.283C>A
ENST00000590530.5:c.*679C>A	ENSP00000468452.1:n.*679C>A
ENST00000591043.1:n.1549C>A
ENST00000591050.1:c.206C>A
ENST00000591470.5:c.1239C>A	ENSP00000466845.1:p.Tyr413Ter
NM_000159.3:c.1239C>A	NP_000150.1:p.Tyr413Ter
NM_013976.3:c.1239C>A	NP_039663.1:p.Tyr413Ter
NR_102316.1:n.1402C>A
NR_102317.1:n.1620C>A
XM_006722721.2:c.1239C>A	XP_006722784.1:p.Tyr413Ter
XM_011527899.1:c.1239C>A	XP_011526201.1:p.Tyr413Ter
XM_011527900.1:c.1239C>A	XP_011526202.1:p.Tyr413Ter
XM_011527899.2:c.1239C>A	XP_011526201.1:p.Tyr413Ter
XM_011527900.2:c.1239C>A	XP_011526202.1:p.Tyr413Ter
XM_017026580.1:c.1239C>A	XP_016882069.1:p.Tyr413Ter
NM_000159.4:c.1239C>A MANE Select	NP_000150.1:p.Tyr413Ter
NM_013976.4:c.1239C>A	NP_039663.1:p.Tyr413Ter
NM_013976.5:c.1239C>A	NP_039663.1:p.Tyr413Ter