Canonical Allele Identifier: CA4195953
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs766431051
ExAC: 7:27135156 A / C
gnomAD v2: 7-27135156-A-C
gnomAD v4: 7-27095537-A-C
MyVariant Identifiers: chr7:g.27135156A>C (hg19) chr7:g.27095537A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095537A>C , CM000669.2:g.27095537A>C GRCh38
NC_000007.13:g.27135156A>C , CM000669.1:g.27135156A>C GRCh37
NC_000007.12:g.27101681A>C NCBI36
NG_011813.1:g.5470T>G
NG_033087.1:g.4444A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.376T>G MANE Select ENSP00000494260.2:p.Cys126Gly
ENST00000343060.4:c.376T>G ENSP00000343246.4:p.Cys126Gly
ENST00000355633.5:c.354+22T>G ENSP00000347851.5:n.354+22T>G
NM_005522.4:c.376T>G NP_005513.1:p.Cys126Gly
NM_153620.2:c.354+22T>G NP_705873.2:n.354+22T>G
NM_005522.5:c.376T>G MANE Select NP_005513.2:p.Cys126Gly
NM_153620.3:c.354+22T>G NP_705873.3:n.354+22T>G
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