Canonical Allele Identifier: CA5839954
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs747164859
ExAC: 11:5255402 G / A
gnomAD v2: 11-5255402-G-A
gnomAD v3: 11-5234172-G-A
gnomAD v4: 11-5234172-G-A
COSMIC: COSM3448566
MyVariant Identifiers: chr11:g.5255402G>A (hg19) chr11:g.5234172G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234172G>A , CM000673.2:g.5234172G>A GRCh38
NC_000011.9:g.5255402G>A , CM000673.1:g.5255402G>A GRCh37
NC_000011.8:g.5211978G>A NCBI36
NG_000007.3:g.63444C>T
NG_063112.2:g.14486C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.134C>T ENSP00000494708.1:p.Ser45Phe
ENST00000650601.1:c.134C>T MANE Select ENSP00000497529.1:p.Ser45Phe
ENST00000292901.7:c.134C>T ENSP00000292901.3:p.Ser45Phe
ENST00000380299.3:c.134C>T ENSP00000369654.3:p.Ser45Phe
ENST00000417377.1:c.92+170C>T ENSP00000414741.1:n.92+170C>T
ENST00000429817.1:c.134C>T ENSP00000393810.1:p.Ser45Phe
NM_000519.3:c.134C>T NP_000510.1:p.Ser45Phe
NM_000519.4:c.134C>T MANE Select NP_000510.1:p.Ser45Phe
Search 100 bp 5'
Search 100 bp 3'