Canonical Allele Identifier: CA32390573

Gene: SLC19A2

Linked Data

• dbSNP Id: rs868402857
• gnomAD v2: 1-169454812-T-C
• gnomAD v3: 1-169485574-T-C
• gnomAD v4: 1-169485574-T-C
• MyVariant Identifiers: chr1:g.169454812T>C (hg19) ; chr1:g.169485574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485574T>C , CM000663.2:g.169485574T>C	GRCh38
NC_000001.10:g.169454812T>C , CM000663.1:g.169454812T>C	GRCh37
NC_000001.9:g.167721436T>C	NCBI36
NG_008255.1:g.5397A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.193A>G MANE Select	ENSP00000236137.5:p.Thr65Ala
ENST00000646596.1:c.193A>G	ENSP00000494404.1:p.Thr65Ala
ENST00000236137.9:c.193A>G	ENSP00000236137.5:p.Thr65Ala
ENST00000367804.4:c.193A>G	ENSP00000356778.3:p.Thr65Ala
NM_006996.2:c.193A>G	NP_008927.1:p.Thr65Ala
XM_011509076.1:c.12+479A>G	XP_011507378.1:n.12+479A>G
XM_011509077.1:c.193A>G	XP_011507379.1:p.Thr65Ala
NM_001319667.1:c.193A>G	NP_001306596.1:p.Thr65Ala
NM_006996.3:c.193A>G MANE Select	NP_008927.1:p.Thr65Ala