Canonical Allele Identifier: CA367068678
Gene: HOXA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.27135144C>A (hg19) chr7:g.27095525C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095525C>A , CM000669.2:g.27095525C>A GRCh38
NC_000007.13:g.27135144C>A , CM000669.1:g.27135144C>A GRCh37
NC_000007.12:g.27101669C>A NCBI36
NG_011813.1:g.5482G>T
NG_033087.1:g.4432C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.388G>T MANE Select ENSP00000494260.2:p.Val130Phe
ENST00000343060.4:c.388G>T ENSP00000343246.4:p.Val130Phe
ENST00000355633.5:c.354+34G>T ENSP00000347851.5:n.354+34G>T
NM_005522.4:c.388G>T NP_005513.1:p.Val130Phe
NM_153620.2:c.354+34G>T NP_705873.2:n.354+34G>T
NM_005522.5:c.388G>T MANE Select NP_005513.2:p.Val130Phe
NM_153620.3:c.354+34G>T NP_705873.3:n.354+34G>T
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