Canonical Allele Identifier: CA8480575
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs777261372
ExAC: 17:28576090 T / G
gnomAD v2: 17-28576090-T-G
gnomAD v4: 17-30249072-T-G
MyVariant Identifiers: chr17:g.28576090T>G (hg19) chr17:g.30249072T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249072T>G , CM000679.2:g.30249072T>G GRCh38
NC_000017.10:g.28576090T>G , CM000679.1:g.28576090T>G GRCh37
NC_000017.9:g.25600216T>G NCBI36
NG_011440.1:g.47985A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.1313A>C MANE Select ENSP00000261714.6:p.Glu438Ala
ENST00000261714.10:c.1313A>C ENSP00000261714.6:p.Glu438Ala
ENST00000578090.5:c.*987A>C ENSP00000462353.1:n.*987A>C
ENST00000578795.1:n.1212A>C
NM_000386.3:c.1313A>C NP_000377.1:p.Glu438Ala
XR_934653.1:n.701-715T>G
XR_934655.1:n.701-3002T>G
NM_000386.4:c.1313A>C MANE Select NP_000377.1:p.Glu438Ala
Search 100 bp 5'
Search 100 bp 3'