Canonical Allele Identifier: CA1099618207
Gene: HOXA13 HGNC NCBI

Linked Data

dbSNP Id: rs1784028323
gnomAD v3: 7-27198186-A-G
gnomAD v4: 7-27198186-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198186A>G , CM000669.2:g.27198186A>G GRCh38
NC_000007.13:g.27237805A>G , CM000669.1:g.27237805A>G GRCh37
NC_000007.12:g.27204330A>G NCBI36
NG_008181.1:g.6921T>C
NG_008181.2:g.6921T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649031.1:c.*12T>C MANE Select ENSP00000497112.1:n.*12T>C
ENST00000222753.5:c.*12T>C ENSP00000222753.4:n.*12T>C
NM_000522.4:c.*12T>C NP_000513.2:n.*12T>C
XM_011515344.1:c.*12T>C XP_011513646.1:n.*12T>C
NM_000522.5:c.*12T>C MANE Select NP_000513.2:n.*12T>C
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