Canonical Allele Identifier: CA32390555

Gene: SLC19A2

Linked Data

• dbSNP Id: rs1006414225
• gnomAD v3: 1-169485563-C-T
• gnomAD v4: 1-169485563-C-T
• MyVariant Identifiers: chr1:g.169454801C>T (hg19) ; chr1:g.169485563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485563C>T , CM000663.2:g.169485563C>T	GRCh38
NC_000001.10:g.169454801C>T , CM000663.1:g.169454801C>T	GRCh37
NC_000001.9:g.167721425C>T	NCBI36
NG_008255.1:g.5408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.204G>A MANE Select	ENSP00000236137.5:p.Glu68=
ENST00000646596.1:c.204G>A	ENSP00000494404.1:p.Glu68=
ENST00000236137.9:c.204G>A	ENSP00000236137.5:p.Glu68=
ENST00000367804.4:c.204G>A	ENSP00000356778.3:p.Glu68=
NM_006996.2:c.204G>A	NP_008927.1:p.Glu68=
XM_011509076.1:c.12+490G>A	XP_011507378.1:n.12+490G>A
XM_011509077.1:c.204G>A	XP_011507379.1:p.Glu68=
NM_001319667.1:c.204G>A	NP_001306596.1:p.Glu68=
NM_006996.3:c.204G>A MANE Select	NP_008927.1:p.Glu68=