Canonical Allele Identifier: CA367068401
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs1427692181
gnomAD v2: 7-27135018-C-T
MyVariant Identifiers: chr7:g.27135018C>T (hg19) chr7:g.27095399C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095399C>T , CM000669.2:g.27095399C>T GRCh38
NC_000007.13:g.27135018C>T , CM000669.1:g.27135018C>T GRCh37
NC_000007.12:g.27101543C>T NCBI36
NG_011813.1:g.5608G>A
NG_033087.1:g.4306C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.514G>A MANE Select ENSP00000494260.2:p.Ala172Thr
ENST00000343060.4:c.514G>A ENSP00000343246.4:p.Ala172Thr
ENST00000355633.5:c.355-44G>A ENSP00000347851.5:n.355-44G>A
NM_005522.4:c.514G>A NP_005513.1:p.Ala172Thr
NM_153620.2:c.355-44G>A NP_705873.2:n.355-44G>A
NM_005522.5:c.514G>A MANE Select NP_005513.2:p.Ala172Thr
NM_153620.3:c.355-44G>A NP_705873.3:n.355-44G>A
Search 100 bp 5'
Search 100 bp 3'