Canonical Allele Identifier: CA4195954
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs371597524
ExAC: 7:27135160 G / C
gnomAD v2: 7-27135160-G-C
gnomAD v4: 7-27095541-G-C
MyVariant Identifiers: chr7:g.27135160G>C (hg19) chr7:g.27095541G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095541G>C , CM000669.2:g.27095541G>C GRCh38
NC_000007.13:g.27135160G>C , CM000669.1:g.27135160G>C GRCh37
NC_000007.12:g.27101685G>C NCBI36
NG_011813.1:g.5466C>G
NG_033087.1:g.4448G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.372C>G MANE Select ENSP00000494260.2:p.Pro124=
ENST00000343060.4:c.372C>G ENSP00000343246.4:p.Pro124=
ENST00000355633.5:c.354+18C>G ENSP00000347851.5:n.354+18C>G
NM_005522.4:c.372C>G NP_005513.1:p.Pro124=
NM_153620.2:c.354+18C>G NP_705873.2:n.354+18C>G
NM_005522.5:c.372C>G MANE Select NP_005513.2:p.Pro124=
NM_153620.3:c.354+18C>G NP_705873.3:n.354+18C>G
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