Canonical Allele Identifier: CA454512899
Gene: HOXA13 HGNC NCBI

Linked Data

dbSNP Id: rs1562520574
gnomAD v4: 7-27198199-T-C
MyVariant Identifiers: chr7:g.27237818T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198199T>C , CM000669.2:g.27198199T>C GRCh38
NC_000007.13:g.27237818T>C , CM000669.1:g.27237818T>C GRCh37
NC_000007.12:g.27204343T>C NCBI36
NG_008181.1:g.6908A>G
NG_008181.2:g.6908A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000649031.1:c.1166A>G MANE Select ENSP00000497112.1:p.Ter389=
ENST00000222753.5:c.1166A>G ENSP00000222753.4:p.Ter389=
NM_000522.4:c.1166A>G NP_000513.2:p.Ter389=
XM_011515344.1:c.1166A>G XP_011513646.1:p.Ter389=
NM_000522.5:c.1166A>G MANE Select NP_000513.2:p.Ter389=
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