Canonical Allele Identifier: CA4195951
Gene: HOXA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2372473
ClinVar RCV Id: RCV003001631
dbSNP Id: rs773671587
ExAC: 7:27135147 C / A
gnomAD v2: 7-27135147-C-A
gnomAD v3: 7-27095528-C-A
gnomAD v4: 7-27095528-C-A
MyVariant Identifiers: chr7:g.27135147C>A (hg19) chr7:g.27095528C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.385G>T MANE Select ENSP00000494260.2:p.Ala129Ser
ENST00000343060.4:c.385G>T ENSP00000343246.4:p.Ala129Ser
ENST00000355633.5:c.354+31G>T ENSP00000347851.5:n.354+31G>T
NM_005522.4:c.385G>T NP_005513.1:p.Ala129Ser
NM_153620.2:c.354+31G>T NP_705873.2:n.354+31G>T
NM_005522.5:c.385G>T MANE Select NP_005513.2:p.Ala129Ser
NM_153620.3:c.354+31G>T NP_705873.3:n.354+31G>T
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