Canonical Allele Identifier: CA257393
Gene: HOXA13 HGNC NCBI

Linked Data

ClinVar Variation Id: 14889
ClinVar RCV Id: RCV000016018
dbSNP Id: rs104894019
MyVariant Identifiers: chr7:g.27237877C>T (hg19) chr7:g.27198258C>T (hg38)
PubMed: PMID:5450271 PMID:9020844
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198258C>T , CM000669.2:g.27198258C>T GRCh38
NC_000007.13:g.27237877C>T , CM000669.1:g.27237877C>T GRCh37
NC_000007.12:g.27204402C>T NCBI36
NG_008181.1:g.6849G>A
NG_008181.2:g.6849G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649031.1:c.1107G>A MANE Select ENSP00000497112.1:p.Trp369Ter
ENST00000222753.5:c.1107G>A ENSP00000222753.4:p.Trp369Ter
NM_000522.4:c.1107G>A NP_000513.2:p.Trp369Ter
XM_011515344.1:c.1107G>A XP_011513646.1:p.Trp369Ter
NM_000522.5:c.1107G>A MANE Select NP_000513.2:p.Trp369Ter
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