Canonical Allele Identifier: CA625433336

Gene: BLMH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30263512T>G , CM000679.2:g.30263512T>G	GRCh38
NC_000017.10:g.28590530T>G , CM000679.1:g.28590530T>G	GRCh37
NC_000017.9:g.25614656T>G	NCBI36
NG_011440.1:g.33545A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261714.11:c.1216+3373A>C MANE Select	ENSP00000261714.6:n.1216+3373A>C
ENST00000261714.10:c.1216+3373A>C	ENSP00000261714.6:n.1216+3373A>C
ENST00000578090.5:c.*890+3373A>C	ENSP00000462353.1:n.*890+3373A>C
NM_000386.3:c.1216+3373A>C	NP_000377.1:n.1216+3373A>C
NM_000386.4:c.1216+3373A>C MANE Select	NP_000377.1:n.1216+3373A>C