Canonical Allele Identifier: CA321950593

Gene: SLC19A1

Linked Data

• dbSNP Id: rs923887519
• gnomAD v3: 21-45546238-C-T
• gnomAD v4: 21-45546238-C-T
• MyVariant Identifiers: chr21:g.46966152C>T (hg19) ; chr21:g.45546238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546238C>T , CM000683.2:g.45546238C>T	GRCh38
NC_000021.8:g.46966152C>T , CM000683.1:g.46966152C>T	GRCh37
NC_000021.7:g.45790580C>T	NCBI36
NG_028278.1:g.1234G>A
NG_028278.2:g.21906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8230G>A	ENSP00000498221.1:n.-49-8230G>A
XM_011529697.1:c.-125-1613G>A	XP_011527999.1:n.-125-1613G>A
XM_011529700.1:c.-49-8230G>A	XP_011528002.1:n.-49-8230G>A
XM_011529705.1:c.-137-1601G>A	XP_011528007.1:n.-137-1601G>A
XM_011529707.1:c.-137-1601G>A	XP_011528009.1:n.-137-1601G>A
XM_011529709.1:c.-407-8230G>A	XP_011528011.1:n.-407-8230G>A
XM_011529710.1:c.-165-14090G>A	XP_011528012.1:n.-165-14090G>A
NM_001352511.1:c.-49-8230G>A	NP_001339440.1:n.-49-8230G>A
XM_011529700.2:c.-49-8230G>A	XP_011528002.1:n.-49-8230G>A
XM_011529709.2:c.-407-8230G>A	XP_011528011.1:n.-407-8230G>A
NM_001352511.2:c.-49-8230G>A	NP_001339440.1:n.-49-8230G>A
NM_001352511.3:c.-49-8230G>A	NP_001339440.1:n.-49-8230G>A