Canonical Allele Identifier: CA2392214117

Gene: SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45544382C= , CM000683.2:g.45544382C=	GRCh38
NC_000021.8:g.46964296C= , CM000683.1:g.46964296C=	GRCh37
NC_000021.7:g.45788724C=	NCBI36
NG_028278.1:g.3090G=
NG_028278.2:g.23762G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650808.1:c.-49-6374G=	ENSP00000498221.1:n.-49-6374G=
ENST00000443742.1:c.-295G=	ENSP00000411345.1:n.-295G=
ENST00000528477.1:c.-378G=	ENSP00000435780.1:n.-378G=
ENST00000567670.5:c.-295G=	ENSP00000457278.1:n.-295G=
XM_011529696.1:c.33-36G=	XP_011527998.1:n.33-36G=
XM_011529697.1:c.33-36G=	XP_011527999.1:n.33-36G=
XM_011529700.1:c.-49-6374G=	XP_011528002.1:n.-49-6374G=
XM_011529701.1:c.-378G=	XP_011528003.1:n.-378G=
XM_011529705.1:c.33-36G=	XP_011528007.1:n.33-36G=
XM_011529707.1:c.33-36G=	XP_011528009.1:n.33-36G=
XM_011529708.1:c.-254-41G=	XP_011528010.1:n.-254-41G=
XM_011529709.1:c.-407-6374G=	XP_011528011.1:n.-407-6374G=
XM_011529710.1:c.-165-12234G=	XP_011528012.1:n.-165-12234G=
NM_001352511.1:c.-49-6374G=	NP_001339440.1:n.-49-6374G=
XM_011529696.2:c.33-36G=	XP_011527998.1:n.33-36G=
XM_011529700.2:c.-49-6374G=	XP_011528002.1:n.-49-6374G=
XM_011529701.2:c.-378G=	XP_011528003.1:n.-378G=
XM_011529709.2:c.-407-6374G=	XP_011528011.1:n.-407-6374G=
XM_017028444.1:c.33-36G=	XP_016883933.1:n.33-36G=
XM_017028445.2:c.33-36G=	XP_016883934.1:n.33-36G=
NM_001352511.2:c.-49-6374G=	NP_001339440.1:n.-49-6374G=
NM_001352511.3:c.-49-6374G=	NP_001339440.1:n.-49-6374G=