Canonical Allele Identifier: CA82748384

Gene: CSTA

Linked Data

• dbSNP Id: rs376145712
• gnomAD v3: 3-122325271-A-G
• gnomAD v4: 3-122325271-A-G
• MyVariant Identifiers: chr3:g.122044118A>G (hg19) ; chr3:g.122325271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122325271A>G , CM000665.2:g.122325271A>G	GRCh38
NC_000003.11:g.122044118A>G , CM000665.1:g.122044118A>G	GRCh37
NC_000003.10:g.123526808A>G	NCBI36
NG_027995.1:g.5108A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264474.4:c.-22A>G MANE Select	ENSP00000264474.3:n.-22A>G
ENST00000264474.3:c.-22A>G	ENSP00000264474.3:n.-22A>G
ENST00000479204.1:c.-22A>G	ENSP00000418891.1:n.-22A>G
NM_005213.3:c.-22A>G	NP_005204.1:n.-22A>G
NM_005213.4:c.-22A>G MANE Select	NP_005204.1:n.-22A>G