Canonical Allele Identifier: CA9234448

Gene: GCDH

Linked Data

• dbSNP Id: rs761489897
• ExAC: 19:13006971 G / T
• gnomAD v2: 19-13006971-G-T
• gnomAD v3: 19-12896157-G-T
• gnomAD v4: 19-12896157-G-T
• MyVariant Identifiers: chr19:g.13006971G>T (hg19) ; chr19:g.12896157G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896157G>T , CM000681.2:g.12896157G>T	GRCh38
NC_000019.9:g.13006971G>T , CM000681.1:g.13006971G>T	GRCh37
NC_000019.8:g.12867971G>T	NCBI36
NG_009292.1:g.9998G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.635+36G>T MANE Select	ENSP00000222214.4:n.635+36G>T
ENST00000222214.9:c.635+36G>T	ENSP00000222214.4:n.635+36G>T
ENST00000421816.6:n.613+36G>T
ENST00000585420.5:n.1000+36G>T
ENST00000590530.5:c.*75+36G>T	ENSP00000468452.1:n.*75+36G>T
ENST00000591043.1:n.671+36G>T
ENST00000591470.5:c.635+36G>T	ENSP00000466845.1:n.635+36G>T
NM_000159.3:c.635+36G>T	NP_000150.1:n.635+36G>T
NM_013976.3:c.635+36G>T	NP_039663.1:n.635+36G>T
NR_102316.1:n.798+36G>T
NR_102317.1:n.1051+36G>T
XM_006722721.2:c.635+36G>T	XP_006722784.1:n.635+36G>T
XM_011527899.1:c.635+36G>T	XP_011526201.1:n.635+36G>T
XM_011527900.1:c.635+36G>T	XP_011526202.1:n.635+36G>T
XM_011527899.2:c.635+36G>T	XP_011526201.1:n.635+36G>T
XM_011527900.2:c.635+36G>T	XP_011526202.1:n.635+36G>T
XM_017026580.1:c.635+36G>T	XP_016882069.1:n.635+36G>T
NM_000159.4:c.635+36G>T MANE Select	NP_000150.1:n.635+36G>T
NM_013976.4:c.635+36G>T	NP_039663.1:n.635+36G>T
NM_013976.5:c.635+36G>T	NP_039663.1:n.635+36G>T