Canonical Allele Identifier: CA749776004

Gene: SLC19A1

Linked Data

• dbSNP Id: rs941127338
• gnomAD v3: 21-45544468-C-G
• gnomAD v4: 21-45544468-C-G
• MyVariant Identifiers: chr21:g.46964382C>G (hg19) ; chr21:g.45544468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45544468C>G , CM000683.2:g.45544468C>G	GRCh38
NC_000021.8:g.46964382C>G , CM000683.1:g.46964382C>G	GRCh37
NC_000021.7:g.45788810C>G	NCBI36
NG_028278.1:g.3004G>C
NG_028278.2:g.23676G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650808.1:c.-49-6460G>C	ENSP00000498221.1:n.-49-6460G>C
XM_011529696.1:c.32+1G>C	XP_011527998.1:n.32+1G>C
XM_011529697.1:c.32+1G>C	XP_011527999.1:n.32+1G>C
XM_011529700.1:c.-49-6460G>C	XP_011528002.1:n.-49-6460G>C
XM_011529705.1:c.32+1G>C	XP_011528007.1:n.32+1G>C
XM_011529707.1:c.32+1G>C	XP_011528009.1:n.32+1G>C
XM_011529708.1:c.-255+1G>C	XP_011528010.1:n.-255+1G>C
XM_011529709.1:c.-407-6460G>C	XP_011528011.1:n.-407-6460G>C
XM_011529710.1:c.-165-12320G>C	XP_011528012.1:n.-165-12320G>C
NM_001352511.1:c.-49-6460G>C	NP_001339440.1:n.-49-6460G>C
XM_011529696.2:c.32+1G>C	XP_011527998.1:n.32+1G>C
XM_011529700.2:c.-49-6460G>C	XP_011528002.1:n.-49-6460G>C
XM_011529709.2:c.-407-6460G>C	XP_011528011.1:n.-407-6460G>C
XM_017028444.1:c.32+1G>C	XP_016883933.1:n.32+1G>C
XM_017028445.2:c.32+1G>C	XP_016883934.1:n.32+1G>C
NM_001352511.2:c.-49-6460G>C	NP_001339440.1:n.-49-6460G>C
NM_001352511.3:c.-49-6460G>C	NP_001339440.1:n.-49-6460G>C