Canonical Allele Identifier: CA14847921
Gene: SLC24A3 HGNC NCBI

Linked Data

dbSNP Id: rs2424234
gnomAD v2: 20-19363979-T-C
gnomAD v3: 20-19383335-T-C
gnomAD v4: 20-19383335-T-C
MyVariant Identifiers: chr20:g.19363979T>C (hg19) chr20:g.19383335T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.19383335T>C , CM000682.2:g.19383335T>C GRCh38
NC_000020.10:g.19363979T>C , CM000682.1:g.19363979T>C GRCh37
NC_000020.9:g.19311979T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000328041.11:c.271+102248T>C MANE Select ENSP00000333519.5:n.271+102248T>C
ENST00000328041.10:c.271+102248T>C ENSP00000333519.5:n.271+102248T>C
ENST00000613834.1:c.271+28194T>C ENSP00000482967.1:n.271+28194T>C
NM_020689.3:c.271+102248T>C NP_065740.2:n.271+102248T>C
NM_020689.4:c.271+102248T>C MANE Select NP_065740.2:n.271+102248T>C
Search 100 bp 5'
Search 100 bp 3'