Canonical Allele Identifier: CA749776984

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1244593391
• gnomAD v3: 21-45546277-C-A
• gnomAD v4: 21-45546277-C-A
• MyVariant Identifiers: chr21:g.46966191C>A (hg19) ; chr21:g.45546277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546277C>A , CM000683.2:g.45546277C>A	GRCh38
NC_000021.8:g.46966191C>A , CM000683.1:g.46966191C>A	GRCh37
NC_000021.7:g.45790619C>A	NCBI36
NG_028278.1:g.1195G>T
NG_028278.2:g.21867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8269G>T	ENSP00000498221.1:n.-49-8269G>T
XM_011529697.1:c.-125-1652G>T	XP_011527999.1:n.-125-1652G>T
XM_011529700.1:c.-49-8269G>T	XP_011528002.1:n.-49-8269G>T
XM_011529705.1:c.-137-1640G>T	XP_011528007.1:n.-137-1640G>T
XM_011529707.1:c.-137-1640G>T	XP_011528009.1:n.-137-1640G>T
XM_011529709.1:c.-407-8269G>T	XP_011528011.1:n.-407-8269G>T
XM_011529710.1:c.-165-14129G>T	XP_011528012.1:n.-165-14129G>T
NM_001352511.1:c.-49-8269G>T	NP_001339440.1:n.-49-8269G>T
XM_011529700.2:c.-49-8269G>T	XP_011528002.1:n.-49-8269G>T
XM_011529709.2:c.-407-8269G>T	XP_011528011.1:n.-407-8269G>T
NM_001352511.2:c.-49-8269G>T	NP_001339440.1:n.-49-8269G>T
NM_001352511.3:c.-49-8269G>T	NP_001339440.1:n.-49-8269G>T