Canonical Allele Identifier: CA343112093

Gene: SLC19A2

Linked Data

• ClinVar Variation Id: 2169485
• ClinVar RCV Id: RCV003084851
• dbSNP Id: rs1658540031
• gnomAD v4: 1-169485576-A-G
• MyVariant Identifiers: chr1:g.169454814A>G (hg19) ; chr1:g.169485576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485576A>G , CM000663.2:g.169485576A>G	GRCh38
NC_000001.10:g.169454814A>G , CM000663.1:g.169454814A>G	GRCh37
NC_000001.9:g.167721438A>G	NCBI36
NG_008255.1:g.5395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.191T>C MANE Select	ENSP00000236137.5:p.Leu64Pro
ENST00000646596.1:c.191T>C	ENSP00000494404.1:p.Leu64Pro
ENST00000236137.9:c.191T>C	ENSP00000236137.5:p.Leu64Pro
ENST00000367804.4:c.191T>C	ENSP00000356778.3:p.Leu64Pro
NM_006996.2:c.191T>C	NP_008927.1:p.Leu64Pro
XM_011509076.1:c.12+477T>C	XP_011507378.1:n.12+477T>C
XM_011509077.1:c.191T>C	XP_011507379.1:p.Leu64Pro
NM_001319667.1:c.191T>C	NP_001306596.1:p.Leu64Pro
NM_006996.3:c.191T>C MANE Select	NP_008927.1:p.Leu64Pro