Canonical Allele Identifier: CA4198548
Gene: HOXA13 HGNC NCBI

Linked Data

dbSNP Id: rs766125491
ExAC: 7:27237892 C / A
gnomAD v2: 7-27237892-C-A
gnomAD v4: 7-27198273-C-A
MyVariant Identifiers: chr7:g.27237892C>A (hg19) chr7:g.27198273C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198273C>A , CM000669.2:g.27198273C>A GRCh38
NC_000007.13:g.27237892C>A , CM000669.1:g.27237892C>A GRCh37
NC_000007.12:g.27204417C>A NCBI36
NG_008181.1:g.6834G>T
NG_008181.2:g.6834G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649031.1:c.1092G>T MANE Select ENSP00000497112.1:p.Arg364=
ENST00000222753.5:c.1092G>T ENSP00000222753.4:p.Arg364=
NM_000522.4:c.1092G>T NP_000513.2:p.Arg364=
XM_011515344.1:c.1092G>T XP_011513646.1:p.Arg364=
NM_000522.5:c.1092G>T MANE Select NP_000513.2:p.Arg364=
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