Canonical Allele Identifier: CA435252071
Gene: CSTA HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.122060288A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122341441A>T , CM000665.2:g.122341441A>T GRCh38
NC_000003.11:g.122060288A>T , CM000665.1:g.122060288A>T GRCh37
NC_000003.10:g.123542978A>T NCBI36
NG_027995.1:g.21278A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264474.4:c.171A>T MANE Select ENSP00000264474.3:p.Val57=
ENST00000264474.3:c.171A>T ENSP00000264474.3:p.Val57=
NM_005213.3:c.171A>T NP_005204.1:p.Val57=
NM_005213.4:c.171A>T MANE Select NP_005204.1:p.Val57=