Canonical Allele Identifier: CA343112404
Gene: SLC19A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1379000
ClinVar RCV Id: RCV001883544
dbSNP Id: rs910991540
MyVariant Identifiers: chr1:g.169454928C>T (hg19) chr1:g.169485690C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485690C>T , CM000663.2:g.169485690C>T GRCh38
NC_000001.10:g.169454928C>T , CM000663.1:g.169454928C>T GRCh37
NC_000001.9:g.167721552C>T NCBI36
NG_008255.1:g.5281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.77G>A MANE Select ENSP00000236137.5:p.Arg26His
ENST00000646596.1:c.77G>A ENSP00000494404.1:p.Arg26His
ENST00000236137.9:c.77G>A ENSP00000236137.5:p.Arg26His
ENST00000367804.4:c.77G>A ENSP00000356778.3:p.Arg26His
NM_006996.2:c.77G>A NP_008927.1:p.Arg26His
XM_011509076.1:c.12+363G>A XP_011507378.1:n.12+363G>A
XM_011509077.1:c.77G>A XP_011507379.1:p.Arg26His
NM_001319667.1:c.77G>A NP_001306596.1:p.Arg26His
NM_006996.3:c.77G>A MANE Select NP_008927.1:p.Arg26His
Search 100 bp 5'
Search 100 bp 3'