Canonical Allele Identifier: CA343112253

Gene: SLC19A2

Linked Data

• dbSNP Id: rs1475145401
• gnomAD v2: 1-169454889-G-T
• MyVariant Identifiers: chr1:g.169454889G>T (hg19) ; chr1:g.169485651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485651G>T , CM000663.2:g.169485651G>T	GRCh38
NC_000001.10:g.169454889G>T , CM000663.1:g.169454889G>T	GRCh37
NC_000001.9:g.167721513G>T	NCBI36
NG_008255.1:g.5320C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.116C>A MANE Select	ENSP00000236137.5:p.Ala39Asp
ENST00000646596.1:c.116C>A	ENSP00000494404.1:p.Ala39Asp
ENST00000236137.9:c.116C>A	ENSP00000236137.5:p.Ala39Asp
ENST00000367804.4:c.116C>A	ENSP00000356778.3:p.Ala39Asp
NM_006996.2:c.116C>A	NP_008927.1:p.Ala39Asp
XM_011509076.1:c.12+402C>A	XP_011507378.1:n.12+402C>A
XM_011509077.1:c.116C>A	XP_011507379.1:p.Ala39Asp
NM_001319667.1:c.116C>A	NP_001306596.1:p.Ala39Asp
NM_006996.3:c.116C>A MANE Select	NP_008927.1:p.Ala39Asp