Canonical Allele Identifier: CA2320965197
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1393933715
gnomAD v4: 19-7533487-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533487C>T , CM000681.2:g.7533487C>T GRCh38
NC_000019.9:g.7598373C>T , CM000681.1:g.7598373C>T GRCh37
NC_000019.8:g.7504373C>T NCBI36
NG_013374.1:g.4336C>T
NG_015806.1:g.15878C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-36C>T MANE Select ENSP00000264079.5:n.1576-36C>T
ENST00000264079.10:c.1576-36C>T ENSP00000264079.5:n.1576-36C>T
ENST00000394321.9:n.1891-36C>T
ENST00000599334.1:c.304-36C>T
ENST00000602227.1:n.94C>T
NM_020533.2:c.1576-36C>T NP_065394.1:n.1576-36C>T
NM_020533.3:c.1576-36C>T MANE Select NP_065394.1:n.1576-36C>T
Search 100 bp 5'
Search 100 bp 3'