Canonical Allele Identifier: CA2569970
Gene: CSTA HGNC NCBI

Linked Data

dbSNP Id: rs747576020
ExAC: 3:122044130 A / C
gnomAD v2: 3-122044130-A-C
gnomAD v3: 3-122325283-A-C
gnomAD v4: 3-122325283-A-C
MyVariant Identifiers: chr3:g.122044130A>C (hg19) chr3:g.122325283A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122325283A>C , CM000665.2:g.122325283A>C GRCh38
NC_000003.11:g.122044130A>C , CM000665.1:g.122044130A>C GRCh37
NC_000003.10:g.123526820A>C NCBI36
NG_027995.1:g.5120A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264474.4:c.-10A>C MANE Select ENSP00000264474.3:n.-10A>C
ENST00000264474.3:c.-10A>C ENSP00000264474.3:n.-10A>C
ENST00000479204.1:c.-10A>C ENSP00000418891.1:n.-10A>C
NM_005213.3:c.-10A>C NP_005204.1:n.-10A>C
NM_005213.4:c.-10A>C MANE Select NP_005204.1:n.-10A>C
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