Canonical Allele Identifier: CA321950546

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1040727352
• gnomAD v2: 21-46966003-G-A
• gnomAD v3: 21-45546089-G-A
• gnomAD v4: 21-45546089-G-A
• MyVariant Identifiers: chr21:g.46966003G>A (hg19) ; chr21:g.45546089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546089G>A , CM000683.2:g.45546089G>A	GRCh38
NC_000021.8:g.46966003G>A , CM000683.1:g.46966003G>A	GRCh37
NC_000021.7:g.45790431G>A	NCBI36
NG_028278.1:g.1383C>T
NG_028278.2:g.22055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8081C>T	ENSP00000498221.1:n.-49-8081C>T
XM_011529697.1:c.-125-1464C>T	XP_011527999.1:n.-125-1464C>T
XM_011529700.1:c.-49-8081C>T	XP_011528002.1:n.-49-8081C>T
XM_011529705.1:c.-137-1452C>T	XP_011528007.1:n.-137-1452C>T
XM_011529707.1:c.-137-1452C>T	XP_011528009.1:n.-137-1452C>T
XM_011529709.1:c.-407-8081C>T	XP_011528011.1:n.-407-8081C>T
XM_011529710.1:c.-165-13941C>T	XP_011528012.1:n.-165-13941C>T
NM_001352511.1:c.-49-8081C>T	NP_001339440.1:n.-49-8081C>T
XM_011529700.2:c.-49-8081C>T	XP_011528002.1:n.-49-8081C>T
XM_011529709.2:c.-407-8081C>T	XP_011528011.1:n.-407-8081C>T
NM_001352511.2:c.-49-8081C>T	NP_001339440.1:n.-49-8081C>T
NM_001352511.3:c.-49-8081C>T	NP_001339440.1:n.-49-8081C>T