Canonical Allele Identifier: CA343112213
Gene: SLC19A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485634T>A , CM000663.2:g.169485634T>A GRCh38
NC_000001.10:g.169454872T>A , CM000663.1:g.169454872T>A GRCh37
NC_000001.9:g.167721496T>A NCBI36
NG_008255.1:g.5337A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.133A>T MANE Select ENSP00000236137.5:p.Ser45Cys
ENST00000646596.1:c.133A>T ENSP00000494404.1:p.Ser45Cys
ENST00000236137.9:c.133A>T ENSP00000236137.5:p.Ser45Cys
ENST00000367804.4:c.133A>T ENSP00000356778.3:p.Ser45Cys
NM_006996.2:c.133A>T NP_008927.1:p.Ser45Cys
XM_011509076.1:c.12+419A>T XP_011507378.1:n.12+419A>T
XM_011509077.1:c.133A>T XP_011507379.1:p.Ser45Cys
NM_001319667.1:c.133A>T NP_001306596.1:p.Ser45Cys
NM_006996.3:c.133A>T MANE Select NP_008927.1:p.Ser45Cys