Canonical Allele Identifier: CA253663

Gene: SLC19A2

Linked Data

• ClinVar Variation Id: 5964
• ClinVar RCV Id: RCV000006328 ; RCV003555939
• dbSNP Id: rs121908540
• ExAC: 1:169454853 G / A
• gnomAD v2: 1-169454853-G-A
• gnomAD v3: 1-169485615-G-A
• gnomAD v4: 1-169485615-G-A
• MyVariant Identifiers: chr1:g.169454853G>A (hg19) ; chr1:g.169485615G>A (hg38)
• PubMed: PMID:14994241

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485615G>A , CM000663.2:g.169485615G>A	GRCh38
NC_000001.10:g.169454853G>A , CM000663.1:g.169454853G>A	GRCh37
NC_000001.9:g.167721477G>A	NCBI36
NG_008255.1:g.5356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.152C>T MANE Select	ENSP00000236137.5:p.Pro51Leu
ENST00000646596.1:c.152C>T	ENSP00000494404.1:p.Pro51Leu
ENST00000236137.9:c.152C>T	ENSP00000236137.5:p.Pro51Leu
ENST00000367804.4:c.152C>T	ENSP00000356778.3:p.Pro51Leu
NM_006996.2:c.152C>T	NP_008927.1:p.Pro51Leu
XM_011509076.1:c.12+438C>T	XP_011507378.1:n.12+438C>T
XM_011509077.1:c.152C>T	XP_011507379.1:p.Pro51Leu
NM_001319667.1:c.152C>T	NP_001306596.1:p.Pro51Leu
NM_006996.3:c.152C>T MANE Select	NP_008927.1:p.Pro51Leu