Canonical Allele Identifier: CA638497445

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1467915553
• gnomAD v2: 21-46957923-C-G
• gnomAD v4: 21-45538009-C-G
• MyVariant Identifiers: chr21:g.46957923C>G (hg19) ; chr21:g.45538009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45538009C>G , CM000683.2:g.45538009C>G	GRCh38
NC_000021.8:g.46957923C>G , CM000683.1:g.46957923C>G	GRCh37
NC_000021.7:g.45782351C>G	NCBI36
NG_028278.1:g.9463G>C
NG_028278.2:g.30135G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311124.9:c.-49-1G>C MANE Select	ENSP00000308895.4:n.-49-1G>C
ENST00000650808.1:c.-49-1G>C	ENSP00000498221.1:n.-49-1G>C
ENST00000311124.8:c.-49-1G>C	ENSP00000308895.4:n.-49-1G>C
ENST00000380010.8:c.-49-1G>C	ENSP00000369347.4:n.-49-1G>C
ENST00000427839.5:c.-49-1G>C	ENSP00000401850.1:n.-49-1G>C
ENST00000443742.1:c.-49-1G>C	ENSP00000411345.1:n.-49-1G>C
ENST00000528477.1:c.-49-1G>C	ENSP00000435780.1:n.-49-1G>C
ENST00000567670.5:c.-49-1G>C	ENSP00000457278.1:n.-49-1G>C
NM_001205206.1:c.-49-1G>C	NP_001192135.1:n.-49-1G>C
NM_194255.2:c.-49-1G>C	NP_919231.1:n.-49-1G>C
XM_005261164.2:c.-407-1G>C	XP_005261221.1:n.-407-1G>C
XM_011529696.1:c.243-1G>C	XP_011527998.1:n.243-1G>C
XM_011529697.1:c.243-1G>C	XP_011527999.1:n.243-1G>C
XM_011529698.1:c.18-1G>C	XP_011528000.1:n.18-1G>C
XM_011529700.1:c.-49-1G>C	XP_011528002.1:n.-49-1G>C
XM_011529701.1:c.-49-1G>C	XP_011528003.1:n.-49-1G>C
XM_011529702.1:c.-49-1G>C	XP_011528004.1:n.-49-1G>C
XM_011529703.1:c.-49-1G>C	XP_011528005.1:n.-49-1G>C
XM_011529704.1:c.-49-1G>C	XP_011528006.1:n.-49-1G>C
XM_011529705.1:c.243-1G>C	XP_011528007.1:n.243-1G>C
XM_011529707.1:c.243-1G>C	XP_011528009.1:n.243-1G>C
XM_011529708.1:c.-49-1G>C	XP_011528010.1:n.-49-1G>C
XM_011529709.1:c.-407-1G>C	XP_011528011.1:n.-407-1G>C
XM_011529710.1:c.-165-5861G>C	XP_011528012.1:n.-165-5861G>C
NM_001205206.2:c.-49-1G>C	NP_001192135.1:n.-49-1G>C
NM_001352510.1:c.-407-1G>C	NP_001339439.1:n.-407-1G>C
NM_001352511.1:c.-49-1G>C	NP_001339440.1:n.-49-1G>C
NM_001352512.1:c.-49-1G>C	NP_001339441.1:n.-49-1G>C
NM_194255.3:c.-49-1G>C	NP_919231.1:n.-49-1G>C
XM_011529696.2:c.243-1G>C	XP_011527998.1:n.243-1G>C
XM_011529698.2:c.18-1G>C	XP_011528000.1:n.18-1G>C
XM_011529700.2:c.-49-1G>C	XP_011528002.1:n.-49-1G>C
XM_011529701.2:c.-49-1G>C	XP_011528003.1:n.-49-1G>C
XM_011529702.2:c.-49-1G>C	XP_011528004.1:n.-49-1G>C
XM_011529703.2:c.-49-1G>C	XP_011528005.1:n.-49-1G>C
XM_011529709.2:c.-407-1G>C	XP_011528011.1:n.-407-1G>C
XM_017028443.1:c.156-1G>C	XP_016883932.1:n.156-1G>C
XM_017028444.1:c.243-1G>C	XP_016883933.1:n.243-1G>C
XM_017028445.2:c.243-1G>C	XP_016883934.1:n.243-1G>C
NM_194255.4:c.-49-1G>C MANE Select	NP_919231.1:n.-49-1G>C
NM_001205206.3:c.-49-1G>C	NP_001192135.1:n.-49-1G>C
NM_001352510.2:c.-407-1G>C	NP_001339439.1:n.-407-1G>C
NM_001352511.2:c.-49-1G>C	NP_001339440.1:n.-49-1G>C
NM_001352512.2:c.-49-1G>C	NP_001339441.1:n.-49-1G>C
NM_001205206.4:c.-49-1G>C	NP_001192135.1:n.-49-1G>C
NM_001352511.3:c.-49-1G>C	NP_001339440.1:n.-49-1G>C