Canonical Allele Identifier: CA367068522
Gene: HOXA1 HGNC NCBI

Linked Data

gnomAD v4: 7-27095453-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095453C>G , CM000669.2:g.27095453C>G GRCh38
NC_000007.13:g.27135072C>G , CM000669.1:g.27135072C>G GRCh37
NC_000007.12:g.27101597C>G NCBI36
NG_011813.1:g.5554G>C
NG_033087.1:g.4360C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.460G>C MANE Select ENSP00000494260.2:p.Val154Leu
ENST00000343060.4:c.460G>C ENSP00000343246.4:p.Val154Leu
ENST00000355633.5:c.355-98G>C ENSP00000347851.5:n.355-98G>C
NM_005522.4:c.460G>C NP_005513.1:p.Val154Leu
NM_153620.2:c.355-98G>C NP_705873.2:n.355-98G>C
NM_005522.5:c.460G>C MANE Select NP_005513.2:p.Val154Leu
NM_153620.3:c.355-98G>C NP_705873.3:n.355-98G>C