Canonical Allele Identifier: CA1233154
Gene: SLC19A2 HGNC NCBI

Linked Data

dbSNP Id: rs553661594
ExAC: 1:169454912 G / T
gnomAD v2: 1-169454912-G-T
gnomAD v3: 1-169485674-G-T
gnomAD v4: 1-169485674-G-T
MyVariant Identifiers: chr1:g.169454912G>T (hg19) chr1:g.169485674G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485674G>T , CM000663.2:g.169485674G>T GRCh38
NC_000001.10:g.169454912G>T , CM000663.1:g.169454912G>T GRCh37
NC_000001.9:g.167721536G>T NCBI36
NG_008255.1:g.5297C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.93C>A MANE Select ENSP00000236137.5:p.Phe31Leu
ENST00000646596.1:c.93C>A ENSP00000494404.1:p.Phe31Leu
ENST00000236137.9:c.93C>A ENSP00000236137.5:p.Phe31Leu
ENST00000367804.4:c.93C>A ENSP00000356778.3:p.Phe31Leu
NM_006996.2:c.93C>A NP_008927.1:p.Phe31Leu
XM_011509076.1:c.12+379C>A XP_011507378.1:n.12+379C>A
XM_011509077.1:c.93C>A XP_011507379.1:p.Phe31Leu
NM_001319667.1:c.93C>A NP_001306596.1:p.Phe31Leu
NM_006996.3:c.93C>A MANE Select NP_008927.1:p.Phe31Leu
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