Canonical Allele Identifier: CA2654931540

Gene: SLC19A1

Linked Data

• gnomAD v4: 21-45544371-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45544371T>A , CM000683.2:g.45544371T>A	GRCh38
NC_000021.8:g.46964285T>A , CM000683.1:g.46964285T>A	GRCh37
NC_000021.7:g.45788713T>A	NCBI36
NG_028278.1:g.3101A>T
NG_028278.2:g.23773A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650808.1:c.-49-6363A>T	ENSP00000498221.1:n.-49-6363A>T
ENST00000443742.1:c.-284A>T	ENSP00000411345.1:n.-284A>T
ENST00000528477.1:c.-367A>T	ENSP00000435780.1:n.-367A>T
ENST00000567670.5:c.-284A>T	ENSP00000457278.1:n.-284A>T
XM_011529696.1:c.33-25A>T	XP_011527998.1:n.33-25A>T
XM_011529697.1:c.33-25A>T	XP_011527999.1:n.33-25A>T
XM_011529700.1:c.-49-6363A>T	XP_011528002.1:n.-49-6363A>T
XM_011529701.1:c.-367A>T	XP_011528003.1:n.-367A>T
XM_011529705.1:c.33-25A>T	XP_011528007.1:n.33-25A>T
XM_011529707.1:c.33-25A>T	XP_011528009.1:n.33-25A>T
XM_011529708.1:c.-254-30A>T	XP_011528010.1:n.-254-30A>T
XM_011529709.1:c.-407-6363A>T	XP_011528011.1:n.-407-6363A>T
XM_011529710.1:c.-165-12223A>T	XP_011528012.1:n.-165-12223A>T
NM_001352511.1:c.-49-6363A>T	NP_001339440.1:n.-49-6363A>T
XM_011529696.2:c.33-25A>T	XP_011527998.1:n.33-25A>T
XM_011529700.2:c.-49-6363A>T	XP_011528002.1:n.-49-6363A>T
XM_011529701.2:c.-367A>T	XP_011528003.1:n.-367A>T
XM_011529709.2:c.-407-6363A>T	XP_011528011.1:n.-407-6363A>T
XM_017028444.1:c.33-25A>T	XP_016883933.1:n.33-25A>T
XM_017028445.2:c.33-25A>T	XP_016883934.1:n.33-25A>T
NM_001352511.2:c.-49-6363A>T	NP_001339440.1:n.-49-6363A>T
NM_001352511.3:c.-49-6363A>T	NP_001339440.1:n.-49-6363A>T