Canonical Allele Identifier: CA343112620

Gene: SLC19A2

Linked Data

• gnomAD v4: 1-169485748-C-A
• MyVariant Identifiers: chr1:g.169454986C>A (hg19) ; chr1:g.169485748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485748C>A , CM000663.2:g.169485748C>A	GRCh38
NC_000001.10:g.169454986C>A , CM000663.1:g.169454986C>A	GRCh37
NC_000001.9:g.167721610C>A	NCBI36
NG_008255.1:g.5223G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.19G>T MANE Select	ENSP00000236137.5:p.Val7Leu
ENST00000646596.1:c.19G>T	ENSP00000494404.1:p.Val7Leu
ENST00000236137.9:c.19G>T	ENSP00000236137.5:p.Val7Leu
ENST00000367804.4:c.19G>T	ENSP00000356778.3:p.Val7Leu
NM_006996.2:c.19G>T	NP_008927.1:p.Val7Leu
XM_011509076.1:c.12+305G>T	XP_011507378.1:n.12+305G>T
XM_011509077.1:c.19G>T	XP_011507379.1:p.Val7Leu
NM_001319667.1:c.19G>T	NP_001306596.1:p.Val7Leu
NM_006996.3:c.19G>T MANE Select	NP_008927.1:p.Val7Leu