Canonical Allele Identifier: CA354153079
Gene: CSTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122341445G>C , CM000665.2:g.122341445G>C GRCh38
NC_000003.11:g.122060292G>C , CM000665.1:g.122060292G>C GRCh37
NC_000003.10:g.123542982G>C NCBI36
NG_027995.1:g.21282G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264474.4:c.175G>C MANE Select ENSP00000264474.3:p.Ala59Pro
ENST00000264474.3:c.175G>C ENSP00000264474.3:p.Ala59Pro
NM_005213.3:c.175G>C NP_005204.1:p.Ala59Pro
NM_005213.4:c.175G>C MANE Select NP_005204.1:p.Ala59Pro