Canonical Allele Identifier: CA2582772686

Gene: GCDH

Linked Data

• gnomAD v4: 19-12897647-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897647G>C , CM000681.2:g.12897647G>C	GRCh38
NC_000019.9:g.13008461G>C , CM000681.1:g.13008461G>C	GRCh37
NC_000019.8:g.12869461G>C	NCBI36
NG_009292.1:g.11488G>C
NG_033049.1:g.26626C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1083-56G>C MANE Select	ENSP00000222214.4:n.1083-56G>C
ENST00000222214.9:c.1083-56G>C	ENSP00000222214.4:n.1083-56G>C
ENST00000585420.5:n.1413-56G>C
ENST00000590472.5:c.127-56G>C
ENST00000590530.5:c.*523-56G>C	ENSP00000468452.1:n.*523-56G>C
ENST00000591043.1:n.1337G>C
ENST00000591050.1:c.50-56G>C
ENST00000591470.5:c.1083-56G>C	ENSP00000466845.1:n.1083-56G>C
NM_000159.3:c.1083-56G>C	NP_000150.1:n.1083-56G>C
NM_013976.3:c.1083-56G>C	NP_039663.1:n.1083-56G>C
NR_102316.1:n.1246-56G>C
NR_102317.1:n.1464-56G>C
XM_006722721.2:c.1083-56G>C	XP_006722784.1:n.1083-56G>C
XM_011527899.1:c.1083-56G>C	XP_011526201.1:n.1083-56G>C
XM_011527900.1:c.1083-56G>C	XP_011526202.1:n.1083-56G>C
XM_011527899.2:c.1083-56G>C	XP_011526201.1:n.1083-56G>C
XM_011527900.2:c.1083-56G>C	XP_011526202.1:n.1083-56G>C
XM_017026580.1:c.1083-56G>C	XP_016882069.1:n.1083-56G>C
NM_000159.4:c.1083-56G>C MANE Select	NP_000150.1:n.1083-56G>C
NM_013976.4:c.1083-56G>C	NP_039663.1:n.1083-56G>C
NM_013976.5:c.1083-56G>C	NP_039663.1:n.1083-56G>C