Canonical Allele Identifier: CA993683412

Gene: GCDH

Linked Data

• dbSNP Id: rs543321653
• gnomAD v3: 19-12897654-C-A
• gnomAD v4: 19-12897654-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897654C>A , CM000681.2:g.12897654C>A	GRCh38
NC_000019.9:g.13008468C>A , CM000681.1:g.13008468C>A	GRCh37
NC_000019.8:g.12869468C>A	NCBI36
NG_009292.1:g.11495C>A
NG_033049.1:g.26619G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1083-49C>A MANE Select	ENSP00000222214.4:n.1083-49C>A
ENST00000222214.9:c.1083-49C>A	ENSP00000222214.4:n.1083-49C>A
ENST00000585420.5:n.1413-49C>A
ENST00000590472.5:c.127-49C>A
ENST00000590530.5:c.*523-49C>A	ENSP00000468452.1:n.*523-49C>A
ENST00000591043.1:n.1344C>A
ENST00000591050.1:c.50-49C>A
ENST00000591470.5:c.1083-49C>A	ENSP00000466845.1:n.1083-49C>A
NM_000159.3:c.1083-49C>A	NP_000150.1:n.1083-49C>A
NM_013976.3:c.1083-49C>A	NP_039663.1:n.1083-49C>A
NR_102316.1:n.1246-49C>A
NR_102317.1:n.1464-49C>A
XM_006722721.2:c.1083-49C>A	XP_006722784.1:n.1083-49C>A
XM_011527899.1:c.1083-49C>A	XP_011526201.1:n.1083-49C>A
XM_011527900.1:c.1083-49C>A	XP_011526202.1:n.1083-49C>A
XM_011527899.2:c.1083-49C>A	XP_011526201.1:n.1083-49C>A
XM_011527900.2:c.1083-49C>A	XP_011526202.1:n.1083-49C>A
XM_017026580.1:c.1083-49C>A	XP_016882069.1:n.1083-49C>A
NM_000159.4:c.1083-49C>A MANE Select	NP_000150.1:n.1083-49C>A
NM_013976.4:c.1083-49C>A	NP_039663.1:n.1083-49C>A
NM_013976.5:c.1083-49C>A	NP_039663.1:n.1083-49C>A