Canonical Allele Identifier: CA321949939

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1011348461
• gnomAD v2: 21-46964308-T-C
• gnomAD v3: 21-45544394-T-C
• gnomAD v4: 21-45544394-T-C
• MyVariant Identifiers: chr21:g.46964308T>C (hg19) ; chr21:g.45544394T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45544394T>C , CM000683.2:g.45544394T>C	GRCh38
NC_000021.8:g.46964308T>C , CM000683.1:g.46964308T>C	GRCh37
NC_000021.7:g.45788736T>C	NCBI36
NG_028278.1:g.3078A>G
NG_028278.2:g.23750A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650808.1:c.-49-6386A>G	ENSP00000498221.1:n.-49-6386A>G
ENST00000443742.1:c.-307A>G	ENSP00000411345.1:n.-307A>G
ENST00000528477.1:c.-390A>G	ENSP00000435780.1:n.-390A>G
ENST00000567670.5:c.-307A>G	ENSP00000457278.1:n.-307A>G
XM_011529696.1:c.33-48A>G	XP_011527998.1:n.33-48A>G
XM_011529697.1:c.33-48A>G	XP_011527999.1:n.33-48A>G
XM_011529700.1:c.-49-6386A>G	XP_011528002.1:n.-49-6386A>G
XM_011529701.1:c.-390A>G	XP_011528003.1:n.-390A>G
XM_011529705.1:c.33-48A>G	XP_011528007.1:n.33-48A>G
XM_011529707.1:c.33-48A>G	XP_011528009.1:n.33-48A>G
XM_011529708.1:c.-254-53A>G	XP_011528010.1:n.-254-53A>G
XM_011529709.1:c.-407-6386A>G	XP_011528011.1:n.-407-6386A>G
XM_011529710.1:c.-165-12246A>G	XP_011528012.1:n.-165-12246A>G
NM_001352511.1:c.-49-6386A>G	NP_001339440.1:n.-49-6386A>G
XM_011529696.2:c.33-48A>G	XP_011527998.1:n.33-48A>G
XM_011529700.2:c.-49-6386A>G	XP_011528002.1:n.-49-6386A>G
XM_011529701.2:c.-390A>G	XP_011528003.1:n.-390A>G
XM_011529709.2:c.-407-6386A>G	XP_011528011.1:n.-407-6386A>G
XM_017028444.1:c.33-48A>G	XP_016883933.1:n.33-48A>G
XM_017028445.2:c.33-48A>G	XP_016883934.1:n.33-48A>G
NM_001352511.2:c.-49-6386A>G	NP_001339440.1:n.-49-6386A>G
NM_001352511.3:c.-49-6386A>G	NP_001339440.1:n.-49-6386A>G