Canonical Allele Identifier: CA32390511

Gene: SLC19A2

Linked Data

• dbSNP Id: rs558597732
• gnomAD v3: 1-169485515-G-A
• gnomAD v4: 1-169485515-G-A
• MyVariant Identifiers: chr1:g.169454753G>A (hg19) ; chr1:g.169485515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485515G>A , CM000663.2:g.169485515G>A	GRCh38
NC_000001.10:g.169454753G>A , CM000663.1:g.169454753G>A	GRCh37
NC_000001.9:g.167721377G>A	NCBI36
NG_008255.1:g.5456C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236137.10:c.204+48C>T MANE Select	ENSP00000236137.5:n.204+48C>T
ENST00000646596.1:c.204+48C>T	ENSP00000494404.1:n.204+48C>T
ENST00000236137.9:c.204+48C>T	ENSP00000236137.5:n.204+48C>T
ENST00000367804.4:c.204+48C>T	ENSP00000356778.3:n.204+48C>T
NM_006996.2:c.204+48C>T	NP_008927.1:n.204+48C>T
XM_011509076.1:c.12+538C>T	XP_011507378.1:n.12+538C>T
XM_011509077.1:c.204+48C>T	XP_011507379.1:n.204+48C>T
NM_001319667.1:c.204+48C>T	NP_001306596.1:n.204+48C>T
NM_006996.3:c.204+48C>T MANE Select	NP_008927.1:n.204+48C>T