Canonical Allele Identifier: CA367068679
Gene: HOXA1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.388G>C MANE Select ENSP00000494260.2:p.Val130Leu
ENST00000343060.4:c.388G>C ENSP00000343246.4:p.Val130Leu
ENST00000355633.5:c.354+34G>C ENSP00000347851.5:n.354+34G>C
NM_005522.4:c.388G>C NP_005513.1:p.Val130Leu
NM_153620.2:c.354+34G>C NP_705873.2:n.354+34G>C
NM_005522.5:c.388G>C MANE Select NP_005513.2:p.Val130Leu
NM_153620.3:c.354+34G>C NP_705873.3:n.354+34G>C
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