Canonical Allele Identifier: CA343112162

Gene: SLC19A2

Linked Data

• dbSNP Id: rs1176088261
• gnomAD v2: 1-169454847-A-G
• gnomAD v3: 1-169485609-A-G
• gnomAD v4: 1-169485609-A-G
• MyVariant Identifiers: chr1:g.169454847A>G (hg19) ; chr1:g.169485609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485609A>G , CM000663.2:g.169485609A>G	GRCh38
NC_000001.10:g.169454847A>G , CM000663.1:g.169454847A>G	GRCh37
NC_000001.9:g.167721471A>G	NCBI36
NG_008255.1:g.5362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.158T>C MANE Select	ENSP00000236137.5:p.Leu53Pro
ENST00000646596.1:c.158T>C	ENSP00000494404.1:p.Leu53Pro
ENST00000236137.9:c.158T>C	ENSP00000236137.5:p.Leu53Pro
ENST00000367804.4:c.158T>C	ENSP00000356778.3:p.Leu53Pro
NM_006996.2:c.158T>C	NP_008927.1:p.Leu53Pro
XM_011509076.1:c.12+444T>C	XP_011507378.1:n.12+444T>C
XM_011509077.1:c.158T>C	XP_011507379.1:p.Leu53Pro
NM_001319667.1:c.158T>C	NP_001306596.1:p.Leu53Pro
NM_006996.3:c.158T>C MANE Select	NP_008927.1:p.Leu53Pro