Canonical Allele Identifier: CA2637004707

Gene: BLMH

Linked Data

• gnomAD v4: 17-30248898-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30248898A>G , CM000679.2:g.30248898A>G	GRCh38
NC_000017.10:g.28575916A>G , CM000679.1:g.28575916A>G	GRCh37
NC_000017.9:g.25600042A>G	NCBI36
NG_011440.1:g.48159T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261714.11:c.*119T>C MANE Select	ENSP00000261714.6:n.*119T>C
ENST00000261714.10:c.*119T>C	ENSP00000261714.6:n.*119T>C
ENST00000578090.5:c.*1161T>C	ENSP00000462353.1:n.*1161T>C
ENST00000578795.1:n.1386T>C
NM_000386.3:c.*119T>C	NP_000377.1:n.*119T>C
XR_934653.1:n.701-889A>G
XR_934655.1:n.701-3176A>G
NM_000386.4:c.*119T>C MANE Select	NP_000377.1:n.*119T>C