Canonical Allele Identifier: CA8440026

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19337659G>A , CM000679.2:g.19337659G>A	GRCh38
NC_000017.10:g.19240972G>A , CM000679.1:g.19240972G>A	GRCh37
NC_000017.9:g.19181565G>A	NCBI36
NG_031885.1:g.45524C>T
NG_031885.2:g.45535C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001243475.1:c.*45C>T	NP_001230404.1:n.*45C>T
NM_001243475.2:c.*45C>T	NP_001230404.1:n.*45C>T
NM_001321218.1:c.*61C>T	NP_001308147.1:n.*61C>T
NM_001321218.2:c.*61C>T	NP_001308147.1:n.*61C>T
NM_001321219.1:c.*26C>T	NP_001308148.1:n.*26C>T
NM_001321219.2:c.*26C>T	NP_001308148.1:n.*26C>T
NM_001368769.2:c.*61C>T	NP_001355698.1:n.*61C>T
ENST00000575403.5:c.*45C>T	ENSP00000459857.1:n.*45C>T
ENST00000582857.2:c.*61C>T	ENSP00000463165.2:n.*61C>T
ENST00000671102.1:c.*61C>T	ENSP00000499690.1:n.*61C>T
ENST00000674596.1:c.*26C>T	ENSP00000501877.1:n.*26C>T
ENST00000675510.1:c.*26C>T	ENSP00000501817.1:n.*26C>T
XM_005256608.2:c.*26C>T	XP_005256665.1:n.*26C>T
XM_011523794.1:c.*61C>T	XP_011522096.1:n.*61C>T