Canonical Allele Identifier: CA749776983

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1274191701
• gnomAD v3: 21-45546273-CT-C
• gnomAD v4: 21-45546273-CT-C
• MyVariant Identifiers: chr21:g.46966188del (hg19) ; chr21:g.45546274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546274del , CM000683.2:g.45546274del	GRCh38
NC_000021.8:g.46966188del , CM000683.1:g.46966188del	GRCh37
NC_000021.7:g.45790616del	NCBI36
NG_028278.1:g.1198del
NG_028278.2:g.21870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650808.1:c.-49-8266del	ENSP00000498221.1:n.-49-8266del
XM_011529697.1:c.-125-1649del	XP_011527999.1:n.-125-1649del
XM_011529700.1:c.-49-8266del	XP_011528002.1:n.-49-8266del
XM_011529705.1:c.-137-1637del	XP_011528007.1:n.-137-1637del
XM_011529707.1:c.-137-1637del	XP_011528009.1:n.-137-1637del
XM_011529709.1:c.-407-8266del	XP_011528011.1:n.-407-8266del
XM_011529710.1:c.-165-14126del	XP_011528012.1:n.-165-14126del
NM_001352511.1:c.-49-8266del	NP_001339440.1:n.-49-8266del
XM_011529700.2:c.-49-8266del	XP_011528002.1:n.-49-8266del
XM_011529709.2:c.-407-8266del	XP_011528011.1:n.-407-8266del
NM_001352511.2:c.-49-8266del	NP_001339440.1:n.-49-8266del
NM_001352511.3:c.-49-8266del	NP_001339440.1:n.-49-8266del