Canonical Allele Identifier: CA2818081529

Gene: SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546250G>A , CM000683.2:g.45546250G>A	GRCh38
NC_000021.8:g.46966164G>A , CM000683.1:g.46966164G>A	GRCh37
NC_000021.7:g.45790592G>A	NCBI36
NG_028278.1:g.1222C>T
NG_028278.2:g.21894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8242C>T	ENSP00000498221.1:n.-49-8242C>T
XM_011529697.1:c.-125-1625C>T	XP_011527999.1:n.-125-1625C>T
XM_011529700.1:c.-49-8242C>T	XP_011528002.1:n.-49-8242C>T
XM_011529705.1:c.-137-1613C>T	XP_011528007.1:n.-137-1613C>T
XM_011529707.1:c.-137-1613C>T	XP_011528009.1:n.-137-1613C>T
XM_011529709.1:c.-407-8242C>T	XP_011528011.1:n.-407-8242C>T
XM_011529710.1:c.-165-14102C>T	XP_011528012.1:n.-165-14102C>T
NM_001352511.1:c.-49-8242C>T	NP_001339440.1:n.-49-8242C>T
XM_011529700.2:c.-49-8242C>T	XP_011528002.1:n.-49-8242C>T
XM_011529709.2:c.-407-8242C>T	XP_011528011.1:n.-407-8242C>T
NM_001352511.2:c.-49-8242C>T	NP_001339440.1:n.-49-8242C>T
NM_001352511.3:c.-49-8242C>T	NP_001339440.1:n.-49-8242C>T