Canonical Allele Identifier: CA4195929
Gene: HOXA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2317895
ClinVar RCV Id: RCV002910331
dbSNP Id: rs764310205
ExAC: 7:27135042 A / G
gnomAD v2: 7-27135042-A-G
gnomAD v4: 7-27095423-A-G
MyVariant Identifiers: chr7:g.27135042A>G (hg19) chr7:g.27095423A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095423A>G , CM000669.2:g.27095423A>G GRCh38
NC_000007.13:g.27135042A>G , CM000669.1:g.27135042A>G GRCh37
NC_000007.12:g.27101567A>G NCBI36
NG_011813.1:g.5584T>C
NG_033087.1:g.4330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.490T>C MANE Select ENSP00000494260.2:p.Tyr164His
ENST00000343060.4:c.490T>C ENSP00000343246.4:p.Tyr164His
ENST00000355633.5:c.355-68T>C ENSP00000347851.5:n.355-68T>C
NM_005522.4:c.490T>C NP_005513.1:p.Tyr164His
NM_153620.2:c.355-68T>C NP_705873.2:n.355-68T>C
NM_005522.5:c.490T>C MANE Select NP_005513.2:p.Tyr164His
NM_153620.3:c.355-68T>C NP_705873.3:n.355-68T>C
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