Canonical Allele Identifier: CA4196011
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs373107510
ExAC: 7:27135341 G / T
gnomAD v2: 7-27135341-G-T
gnomAD v4: 7-27095722-G-T
MyVariant Identifiers: chr7:g.27135341G>T (hg19) chr7:g.27095722G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095722G>T , CM000669.2:g.27095722G>T GRCh38
NC_000007.13:g.27135341G>T , CM000669.1:g.27135341G>T GRCh37
NC_000007.12:g.27101866G>T NCBI36
NG_011813.1:g.5285C>A
NG_033087.1:g.4629G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.191C>A MANE Select ENSP00000494260.2:p.Pro64His
ENST00000343060.4:c.191C>A ENSP00000343246.4:p.Pro64His
ENST00000355633.5:c.191C>A ENSP00000347851.5:p.Pro64His
NM_005522.4:c.191C>A NP_005513.1:p.Pro64His
NM_153620.2:c.191C>A NP_705873.2:p.Pro64His
NM_005522.5:c.191C>A MANE Select NP_005513.2:p.Pro64His
NM_153620.3:c.191C>A NP_705873.3:p.Pro64His
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