Canonical Allele Identifier: CA4198538
Gene: HOXA13 HGNC NCBI

Linked Data

dbSNP Id: rs746043394
gnomAD v2: 7-27237796-T-G
gnomAD v4: 7-27198177-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198177T>G , CM000669.2:g.27198177T>G GRCh38
NC_000007.13:g.27237796T>G , CM000669.1:g.27237796T>G GRCh37
NC_000007.12:g.27204321T>G NCBI36
NG_008181.1:g.6930A>C
NG_008181.2:g.6930A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649031.1:c.*21A>C MANE Select ENSP00000497112.1:n.*21A>C
ENST00000222753.5:c.*21A>C ENSP00000222753.4:n.*21A>C
NM_000522.4:c.*21A>C NP_000513.2:n.*21A>C
XM_011515344.1:c.*21A>C XP_011513646.1:n.*21A>C
NM_000522.5:c.*21A>C MANE Select NP_000513.2:n.*21A>C