Canonical Allele Identifier: CA993153893
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146023210
gnomAD v3: 19-7527267-G-T
gnomAD v4: 19-7527267-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527267G>T , CM000681.2:g.7527267G>T GRCh38
NC_000019.9:g.7592153G>T , CM000681.1:g.7592153G>T GRCh37
NC_000019.8:g.7498153G>T NCBI36
NG_015806.1:g.9658G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-253G>T MANE Select ENSP00000264079.5:n.572-253G>T
ENST00000264079.10:c.572-253G>T ENSP00000264079.5:n.572-253G>T
ENST00000394321.9:n.652-253G>T
ENST00000598406.1:n.393-253G>T
ENST00000601003.1:c.571+341G>T ENSP00000469074.1:n.571+341G>T
NM_020533.2:c.572-253G>T NP_065394.1:n.572-253G>T
NM_020533.3:c.572-253G>T MANE Select NP_065394.1:n.572-253G>T
Search 100 bp 5'
Search 100 bp 3'