Canonical Allele Identifier: CA510160591
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028498G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047861G>A , CM000682.2:g.23047861G>A GRCh38
NC_000020.10:g.23028498G>A , CM000682.1:g.23028498G>A GRCh37
NC_000020.9:g.22976498G>A NCBI36
NG_012027.1:g.6804C>T , LRG_168:g.6804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1644C>T MANE Select ENSP00000366307.2:p.Ala548=
ENST00000377103.2:c.1644C>T ENSP00000366307.2:p.Ala548=
NM_000361.2:c.1644C>T , LRG_168t1:c.1644C>T NP_000352.1:p.Ala548=
NM_000361.3:c.1644C>T MANE Select NP_000352.1:p.Ala548=
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