Canonical Allele Identifier: CA2637004729

Gene: BLMH

Linked Data

• gnomAD v4: 17-30248921-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30248921A>G , CM000679.2:g.30248921A>G	GRCh38
NC_000017.10:g.28575939A>G , CM000679.1:g.28575939A>G	GRCh37
NC_000017.9:g.25600065A>G	NCBI36
NG_011440.1:g.48136T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261714.11:c.*96T>C MANE Select	ENSP00000261714.6:n.*96T>C
ENST00000261714.10:c.*96T>C	ENSP00000261714.6:n.*96T>C
ENST00000578090.5:c.*1138T>C	ENSP00000462353.1:n.*1138T>C
ENST00000578795.1:n.1363T>C
NM_000386.3:c.*96T>C	NP_000377.1:n.*96T>C
XR_934653.1:n.701-866A>G
XR_934655.1:n.701-3153A>G
NM_000386.4:c.*96T>C MANE Select	NP_000377.1:n.*96T>C