Canonical Allele Identifier: CA398932047
Gene: BLMH HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.28576036C>G (hg19) chr17:g.30249018C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249018C>G , CM000679.2:g.30249018C>G GRCh38
NC_000017.10:g.28576036C>G , CM000679.1:g.28576036C>G GRCh37
NC_000017.9:g.25600162C>G NCBI36
NG_011440.1:g.48039G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.1367G>C MANE Select ENSP00000261714.6:p.Ter456Ser
ENST00000261714.10:c.1367G>C ENSP00000261714.6:p.Ter456Ser
ENST00000578090.5:c.*1041G>C ENSP00000462353.1:n.*1041G>C
ENST00000578795.1:n.1266G>C
NM_000386.3:c.1367G>C NP_000377.1:p.Ter456Ser
XR_934653.1:n.701-769C>G
XR_934655.1:n.701-3056C>G
NM_000386.4:c.1367G>C MANE Select NP_000377.1:p.Ter456Ser
Search 100 bp 5'
Search 100 bp 3'