Canonical Allele Identifier: CA638177063

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1446054091
• gnomAD v2: 21-46966005-A-G
• gnomAD v3: 21-45546091-A-G
• gnomAD v4: 21-45546091-A-G
• MyVariant Identifiers: chr21:g.46966005A>G (hg19) ; chr21:g.45546091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546091A>G , CM000683.2:g.45546091A>G	GRCh38
NC_000021.8:g.46966005A>G , CM000683.1:g.46966005A>G	GRCh37
NC_000021.7:g.45790433A>G	NCBI36
NG_028278.1:g.1381T>C
NG_028278.2:g.22053T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650808.1:c.-49-8083T>C	ENSP00000498221.1:n.-49-8083T>C
XM_011529697.1:c.-125-1466T>C	XP_011527999.1:n.-125-1466T>C
XM_011529700.1:c.-49-8083T>C	XP_011528002.1:n.-49-8083T>C
XM_011529705.1:c.-137-1454T>C	XP_011528007.1:n.-137-1454T>C
XM_011529707.1:c.-137-1454T>C	XP_011528009.1:n.-137-1454T>C
XM_011529709.1:c.-407-8083T>C	XP_011528011.1:n.-407-8083T>C
XM_011529710.1:c.-165-13943T>C	XP_011528012.1:n.-165-13943T>C
NM_001352511.1:c.-49-8083T>C	NP_001339440.1:n.-49-8083T>C
XM_011529700.2:c.-49-8083T>C	XP_011528002.1:n.-49-8083T>C
XM_011529709.2:c.-407-8083T>C	XP_011528011.1:n.-407-8083T>C
NM_001352511.2:c.-49-8083T>C	NP_001339440.1:n.-49-8083T>C
NM_001352511.3:c.-49-8083T>C	NP_001339440.1:n.-49-8083T>C