Canonical Allele Identifier: CA14881666

Gene: SLC19A1

Linked Data

• dbSNP Id: rs3788205
• gnomAD v2: 21-46964378-T-C
• gnomAD v3: 21-45544464-T-C
• gnomAD v4: 21-45544464-T-C
• MyVariant Identifiers: chr21:g.46964378T>C (hg19) ; chr21:g.45544464T>C (hg38)

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