Canonical Allele Identifier: CA367068685
Gene: HOXA1 HGNC NCBI

Linked Data

gnomAD v4: 7-27095528-C-T
MyVariant Identifiers: chr7:g.27135147C>T (hg19) chr7:g.27095528C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095528C>T , CM000669.2:g.27095528C>T GRCh38
NC_000007.13:g.27135147C>T , CM000669.1:g.27135147C>T GRCh37
NC_000007.12:g.27101672C>T NCBI36
NG_011813.1:g.5479G>A
NG_033087.1:g.4435C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.385G>A MANE Select ENSP00000494260.2:p.Ala129Thr
ENST00000343060.4:c.385G>A ENSP00000343246.4:p.Ala129Thr
ENST00000355633.5:c.354+31G>A ENSP00000347851.5:n.354+31G>A
NM_005522.4:c.385G>A NP_005513.1:p.Ala129Thr
NM_153620.2:c.354+31G>A NP_705873.2:n.354+31G>A
NM_005522.5:c.385G>A MANE Select NP_005513.2:p.Ala129Thr
NM_153620.3:c.354+31G>A NP_705873.3:n.354+31G>A
Search 100 bp 5'
Search 100 bp 3'