Canonical Allele Identifier: CA783398862

Gene: GCDH

Linked Data

• dbSNP Id: rs1298961934
• gnomAD v3: 19-12895921-C-T
• gnomAD v4: 19-12895921-C-T
• MyVariant Identifiers: chr19:g.13006735C>T (hg19) ; chr19:g.12895921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12895921C>T , CM000681.2:g.12895921C>T	GRCh38
NC_000019.9:g.13006735C>T , CM000681.1:g.13006735C>T	GRCh37
NC_000019.8:g.12867735C>T	NCBI36
NG_009292.1:g.9762C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.506-71C>T MANE Select	ENSP00000222214.4:n.506-71C>T
ENST00000222214.9:c.506-71C>T	ENSP00000222214.4:n.506-71C>T
ENST00000421816.6:n.484-71C>T
ENST00000585420.5:n.871-71C>T
ENST00000588905.5:c.470-71C>T	ENSP00000465770.1:n.470-71C>T
ENST00000589039.5:c.443-71C>T	ENSP00000465618.1:n.443-71C>T
ENST00000590530.5:c.561-71C>T	ENSP00000468452.1:n.561-71C>T
ENST00000591043.1:n.542-71C>T
ENST00000591470.5:c.506-71C>T	ENSP00000466845.1:n.506-71C>T
NM_000159.3:c.506-71C>T	NP_000150.1:n.506-71C>T
NM_013976.3:c.506-71C>T	NP_039663.1:n.506-71C>T
NR_102316.1:n.669-71C>T
NR_102317.1:n.922-71C>T
XM_006722721.2:c.506-71C>T	XP_006722784.1:n.506-71C>T
XM_011527899.1:c.506-71C>T	XP_011526201.1:n.506-71C>T
XM_011527900.1:c.506-71C>T	XP_011526202.1:n.506-71C>T
XM_011527899.2:c.506-71C>T	XP_011526201.1:n.506-71C>T
XM_011527900.2:c.506-71C>T	XP_011526202.1:n.506-71C>T
XM_017026580.1:c.506-71C>T	XP_016882069.1:n.506-71C>T
NM_000159.4:c.506-71C>T MANE Select	NP_000150.1:n.506-71C>T
NM_013976.4:c.506-71C>T	NP_039663.1:n.506-71C>T
NM_013976.5:c.506-71C>T	NP_039663.1:n.506-71C>T