Canonical Allele Identifier: CA2682147493
Gene: HOXA13 HGNC NCBI

Linked Data

gnomAD v4: 7-27198080-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198080C>G , CM000669.2:g.27198080C>G GRCh38
NC_000007.13:g.27237699C>G , CM000669.1:g.27237699C>G GRCh37
NC_000007.12:g.27204224C>G NCBI36
NG_008181.1:g.7027G>C
NG_008181.2:g.7027G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649031.1:c.*118G>C MANE Select ENSP00000497112.1:n.*118G>C
ENST00000222753.5:c.*118G>C ENSP00000222753.4:n.*118G>C
NM_000522.4:c.*118G>C NP_000513.2:n.*118G>C
XM_011515344.1:c.*118G>C XP_011513646.1:n.*118G>C
NM_000522.5:c.*118G>C MANE Select NP_000513.2:n.*118G>C
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