Canonical Allele Identifier: CA2569966
Gene: CSTA HGNC NCBI

Linked Data

dbSNP Id: rs779750732
ExAC: 3:122044122 A / G
gnomAD v2: 3-122044122-A-G
gnomAD v4: 3-122325275-A-G
MyVariant Identifiers: chr3:g.122044122A>G (hg19) chr3:g.122325275A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122325275A>G , CM000665.2:g.122325275A>G GRCh38
NC_000003.11:g.122044122A>G , CM000665.1:g.122044122A>G GRCh37
NC_000003.10:g.123526812A>G NCBI36
NG_027995.1:g.5112A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264474.4:c.-18A>G MANE Select ENSP00000264474.3:n.-18A>G
ENST00000264474.3:c.-18A>G ENSP00000264474.3:n.-18A>G
ENST00000479204.1:c.-18A>G ENSP00000418891.1:n.-18A>G
NM_005213.3:c.-18A>G NP_005204.1:n.-18A>G
NM_005213.4:c.-18A>G MANE Select NP_005204.1:n.-18A>G
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