Canonical Allele Identifier: CA2320962310
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599253961
gnomAD v4: 19-7527466-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527466A>C , CM000681.2:g.7527466A>C GRCh38
NC_000019.9:g.7592352A>C , CM000681.1:g.7592352A>C GRCh37
NC_000019.8:g.7498352A>C NCBI36
NG_015806.1:g.9857A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-54A>C MANE Select ENSP00000264079.5:n.572-54A>C
ENST00000264079.10:c.572-54A>C ENSP00000264079.5:n.572-54A>C
ENST00000394321.9:n.652-54A>C
ENST00000598406.1:n.393-54A>C
ENST00000601003.1:c.572-398A>C ENSP00000469074.1:n.572-398A>C
NM_020533.2:c.572-54A>C NP_065394.1:n.572-54A>C
NM_020533.3:c.572-54A>C MANE Select NP_065394.1:n.572-54A>C
Search 100 bp 5'
Search 100 bp 3'