Canonical Allele Identifier: CA14881666
Gene: SLC19A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45544464T>C
GRCh37 chr21:g.46964378T>C
gnomAD v2:
21:46964378 T / C
gnomAD v3:
21:45544464 T / C
gnomAD v4:
chr21-45544464-T-C
Joint Max Group AF 0.92809864 (AFR)
Genomes Max Group AF 0.92818524 (AFR)
Exomes Max Group AF 0.7395122 (AFR)
dbSNP:
3788205
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45544464T>C , CM000683.2:g.45544464T>C GRCh38
NC_000021.8:g.46964378T>C , CM000683.1:g.46964378T>C GRCh37
NC_000021.7:g.45788806T>C NCBI36
NG_028278.1:g.3008A>G
NG_028278.2:g.23680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650808.1:c.-49-6456A>G ENSP00000498221.1:n.-49-6456A>G
XM_011529696.1:c.32+5A>G XP_011527998.1:n.32+5A>G
XM_011529697.1:c.32+5A>G XP_011527999.1:n.32+5A>G
XM_011529700.1:c.-49-6456A>G XP_011528002.1:n.-49-6456A>G
XM_011529705.1:c.32+5A>G XP_011528007.1:n.32+5A>G
XM_011529707.1:c.32+5A>G XP_011528009.1:n.32+5A>G
XM_011529708.1:c.-255+5A>G XP_011528010.1:n.-255+5A>G
XM_011529709.1:c.-407-6456A>G XP_011528011.1:n.-407-6456A>G
XM_011529710.1:c.-165-12316A>G XP_011528012.1:n.-165-12316A>G
NM_001352511.1:c.-49-6456A>G NP_001339440.1:n.-49-6456A>G
XM_011529696.2:c.32+5A>G XP_011527998.1:n.32+5A>G
XM_011529700.2:c.-49-6456A>G XP_011528002.1:n.-49-6456A>G
XM_011529709.2:c.-407-6456A>G XP_011528011.1:n.-407-6456A>G
XM_017028444.1:c.32+5A>G XP_016883933.1:n.32+5A>G
XM_017028445.2:c.32+5A>G XP_016883934.1:n.32+5A>G
NM_001352511.2:c.-49-6456A>G NP_001339440.1:n.-49-6456A>G
NM_001352511.3:c.-49-6456A>G NP_001339440.1:n.-49-6456A>G
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