Canonical Allele Identifier: CA155901292
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs865943119
gnomAD v2: 7-27135408-C-T
gnomAD v3: 7-27095789-C-T
gnomAD v4: 7-27095789-C-T
MyVariant Identifiers: chr7:g.27135408C>T (hg19) chr7:g.27095789C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095789C>T , CM000669.2:g.27095789C>T GRCh38
NC_000007.13:g.27135408C>T , CM000669.1:g.27135408C>T GRCh37
NC_000007.12:g.27101933C>T NCBI36
NG_011813.1:g.5218G>A
NG_033087.1:g.4696C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.124G>A MANE Select ENSP00000494260.2:p.Val42Ile
ENST00000343060.4:c.124G>A ENSP00000343246.4:p.Val42Ile
ENST00000355633.5:c.124G>A ENSP00000347851.5:p.Val42Ile
NM_005522.4:c.124G>A NP_005513.1:p.Val42Ile
NM_153620.2:c.124G>A NP_705873.2:p.Val42Ile
NM_005522.5:c.124G>A MANE Select NP_005513.2:p.Val42Ile
NM_153620.3:c.124G>A NP_705873.3:p.Val42Ile
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