Canonical Allele Identifier: CA354153069
Gene: CSTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122341440T>C , CM000665.2:g.122341440T>C GRCh38
NC_000003.11:g.122060287T>C , CM000665.1:g.122060287T>C GRCh37
NC_000003.10:g.123542977T>C NCBI36
NG_027995.1:g.21277T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264474.4:c.170T>C MANE Select ENSP00000264474.3:p.Val57Ala
ENST00000264474.3:c.170T>C ENSP00000264474.3:p.Val57Ala
NM_005213.3:c.170T>C NP_005204.1:p.Val57Ala
NM_005213.4:c.170T>C MANE Select NP_005204.1:p.Val57Ala