Canonical Allele Identifier: CA908279037

Gene: CHDH

Linked Data

• dbSNP Id: rs1266794080
• MyVariant Identifiers: chr3:g.53878823A>T (hg19) ; chr3:g.53844796A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844796A>T , CM000665.2:g.53844796A>T	GRCh38
NC_000003.11:g.53878823A>T , CM000665.1:g.53878823A>T	GRCh37
NC_000003.10:g.53853863A>T	NCBI36
NG_028042.1:g.6598T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1287T>A MANE Select	ENSP00000319851.5:n.-131+1287T>A
ENST00000315251.10:c.-131+1287T>A	ENSP00000319851.5:n.-131+1287T>A
NM_018397.4:c.-131+1287T>A	NP_060867.2:n.-131+1287T>A
XM_006713250.2:c.-131+1287T>A	XP_006713313.1:n.-131+1287T>A
XM_006713251.2:c.-131+1026T>A	XP_006713314.1:n.-131+1026T>A
XM_006713252.2:c.-131+1287T>A	XP_006713315.1:n.-131+1287T>A
XM_011533938.1:c.-214T>A	XP_011532240.1:n.-214T>A
XM_011533939.1:c.-131+47T>A	XP_011532241.1:n.-131+47T>A
XM_006713250.4:c.-131+1287T>A	XP_006713313.1:n.-131+1287T>A
XM_006713251.4:c.-131+1026T>A	XP_006713314.1:n.-131+1026T>A
XM_006713252.4:c.-131+1287T>A	XP_006713315.1:n.-131+1287T>A
XM_011533938.3:c.-214T>A	XP_011532240.1:n.-214T>A
XM_011533939.3:c.-131+47T>A	XP_011532241.1:n.-131+47T>A
XM_017006797.2:c.-214T>A	XP_016862286.1:n.-214T>A
XM_017006799.2:c.-131+1287T>A	XP_016862288.1:n.-131+1287T>A
XR_001740199.2:n.382+1287T>A
XR_002959545.1:n.382+1287T>A
NM_018397.5:c.-131+1287T>A MANE Select	NP_060867.2:n.-131+1287T>A