Canonical Allele Identifier: CA4196014
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs751378994
ExAC: 7:27135348 C / T
gnomAD v2: 7-27135348-C-T
gnomAD v4: 7-27095729-C-T
MyVariant Identifiers: chr7:g.27135348C>T (hg19) chr7:g.27095729C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095729C>T , CM000669.2:g.27095729C>T GRCh38
NC_000007.13:g.27135348C>T , CM000669.1:g.27135348C>T GRCh37
NC_000007.12:g.27101873C>T NCBI36
NG_011813.1:g.5278G>A
NG_033087.1:g.4636C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.184G>A MANE Select ENSP00000494260.2:p.Gly62Ser
ENST00000343060.4:c.184G>A ENSP00000343246.4:p.Gly62Ser
ENST00000355633.5:c.184G>A ENSP00000347851.5:p.Gly62Ser
NM_005522.4:c.184G>A NP_005513.1:p.Gly62Ser
NM_153620.2:c.184G>A NP_705873.2:p.Gly62Ser
NM_005522.5:c.184G>A MANE Select NP_005513.2:p.Gly62Ser
NM_153620.3:c.184G>A NP_705873.3:p.Gly62Ser
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