Canonical Allele Identifier: CA2682147489
Gene: HOXA13 HGNC NCBI

Linked Data

gnomAD v4: 7-27198078-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198078C>A , CM000669.2:g.27198078C>A GRCh38
NC_000007.13:g.27237697C>A , CM000669.1:g.27237697C>A GRCh37
NC_000007.12:g.27204222C>A NCBI36
NG_008181.1:g.7029G>T
NG_008181.2:g.7029G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649031.1:c.*120G>T MANE Select ENSP00000497112.1:n.*120G>T
ENST00000222753.5:c.*120G>T ENSP00000222753.4:n.*120G>T
NM_000522.4:c.*120G>T NP_000513.2:n.*120G>T
XM_011515344.1:c.*120G>T XP_011513646.1:n.*120G>T
NM_000522.5:c.*120G>T MANE Select NP_000513.2:n.*120G>T