Canonical Allele Identifier: CA288538110

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19337913T>C , CM000679.2:g.19337913T>C	GRCh38
NC_000017.10:g.19241226T>C , CM000679.1:g.19241226T>C	GRCh37
NC_000017.9:g.19181819T>C	NCBI36
NG_031885.1:g.45270A>G
NG_031885.2:g.45281A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001243475.1:c.400-165A>G	NP_001230404.1:n.400-165A>G
NM_001243475.2:c.400-165A>G	NP_001230404.1:n.400-165A>G
NM_001321218.1:c.473-165A>G	NP_001308147.1:n.473-165A>G
NM_001321218.2:c.473-165A>G	NP_001308147.1:n.473-165A>G
NM_001321219.1:c.405-165A>G	NP_001308148.1:n.405-165A>G
NM_001321219.2:c.405-165A>G	NP_001308148.1:n.405-165A>G
NM_001368769.2:c.113-165A>G	NP_001355698.1:n.113-165A>G
ENST00000575403.5:c.400-165A>G	ENSP00000459857.1:n.400-165A>G
ENST00000582857.2:c.113-165A>G	ENSP00000463165.2:n.113-165A>G
ENST00000671102.1:c.536-165A>G	ENSP00000499690.1:n.536-165A>G
ENST00000674596.1:c.303-165A>G	ENSP00000501877.1:n.303-165A>G
ENST00000675510.1:c.405-165A>G	ENSP00000501817.1:n.405-165A>G
XM_005256608.2:c.405-165A>G	XP_005256665.1:n.405-165A>G
XM_011523794.1:c.473-165A>G	XP_011522096.1:n.473-165A>G