Canonical Allele Identifier: CA367068806
Gene: HOXA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2657358
ClinVar RCV Id: RCV003436689
dbSNP Id: rs1268485541
gnomAD v2: 7-27135203-G-A
gnomAD v4: 7-27095584-G-A
MyVariant Identifiers: chr7:g.27135203G>A (hg19) chr7:g.27095584G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095584G>A , CM000669.2:g.27095584G>A GRCh38
NC_000007.13:g.27135203G>A , CM000669.1:g.27135203G>A GRCh37
NC_000007.12:g.27101728G>A NCBI36
NG_011813.1:g.5423C>T
NG_033087.1:g.4491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.329C>T MANE Select ENSP00000494260.2:p.Pro110Leu
ENST00000343060.4:c.329C>T ENSP00000343246.4:p.Pro110Leu
ENST00000355633.5:c.329C>T ENSP00000347851.5:p.Pro110Leu
NM_005522.4:c.329C>T NP_005513.1:p.Pro110Leu
NM_153620.2:c.329C>T NP_705873.2:p.Pro110Leu
NM_005522.5:c.329C>T MANE Select NP_005513.2:p.Pro110Leu
NM_153620.3:c.329C>T NP_705873.3:p.Pro110Leu
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