Canonical Allele Identifier: CA2576219892

Gene: BLMH

Linked Data

• dbSNP Id: rs2143018905

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30249012C>T , CM000679.2:g.30249012C>T	GRCh38
NC_000017.10:g.28576030C>T , CM000679.1:g.28576030C>T	GRCh37
NC_000017.9:g.25600156C>T	NCBI36
NG_011440.1:g.48045G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261714.11:c.*5G>A MANE Select	ENSP00000261714.6:n.*5G>A
ENST00000261714.10:c.*5G>A	ENSP00000261714.6:n.*5G>A
ENST00000578090.5:c.*1047G>A	ENSP00000462353.1:n.*1047G>A
ENST00000578795.1:n.1272G>A
NM_000386.3:c.*5G>A	NP_000377.1:n.*5G>A
XR_934653.1:n.701-775C>T
XR_934655.1:n.701-3062C>T
NM_000386.4:c.*5G>A MANE Select	NP_000377.1:n.*5G>A