Canonical Allele Identifier: CA2743688075

Gene: BSND

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54999169G>T , CM000663.2:g.54999169G>T	GRCh38
NC_000001.10:g.55464842G>T , CM000663.1:g.55464842G>T	GRCh37
NC_000001.9:g.55237430G>T	NCBI36
NG_008965.1:g.5226G>T
NG_008965.2:g.5237G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651561.1:c.-18G>T MANE Select	ENSP00000498282.1:n.-18G>T
ENST00000371265.4:c.-18G>T	ENSP00000360312.4:n.-18G>T
NM_057176.2:c.-18G>T	NP_476517.1:n.-18G>T
NM_057176.3:c.-18G>T MANE Select	NP_476517.1:n.-18G>T