Canonical Allele Identifier: CA2637004691

Gene: BLMH

Linked Data

• gnomAD v4: 17-30248876-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30248876A>G , CM000679.2:g.30248876A>G	GRCh38
NC_000017.10:g.28575894A>G , CM000679.1:g.28575894A>G	GRCh37
NC_000017.9:g.25600020A>G	NCBI36
NG_011440.1:g.48181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261714.11:c.*141T>C MANE Select	ENSP00000261714.6:n.*141T>C
ENST00000261714.10:c.*141T>C	ENSP00000261714.6:n.*141T>C
ENST00000578090.5:c.*1183T>C	ENSP00000462353.1:n.*1183T>C
ENST00000578795.1:n.1408T>C
NM_000386.3:c.*141T>C	NP_000377.1:n.*141T>C
XR_934653.1:n.701-911A>G
XR_934655.1:n.701-3198A>G
NM_000386.4:c.*141T>C MANE Select	NP_000377.1:n.*141T>C