Canonical Allele Identifier: CA993154326
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1376168713
gnomAD v3: 19-7527796-G-C
gnomAD v4: 19-7527796-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527796G>C , CM000681.2:g.7527796G>C GRCh38
NC_000019.9:g.7592682G>C , CM000681.1:g.7592682G>C GRCh37
NC_000019.8:g.7498682G>C NCBI36
NG_015806.1:g.10187G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.681-68G>C MANE Select ENSP00000264079.5:n.681-68G>C
ENST00000264079.10:c.681-68G>C ENSP00000264079.5:n.681-68G>C
ENST00000394321.9:n.928G>C
ENST00000601003.1:c.572-68G>C ENSP00000469074.1:n.572-68G>C
NM_020533.2:c.681-68G>C NP_065394.1:n.681-68G>C
NM_020533.3:c.681-68G>C MANE Select NP_065394.1:n.681-68G>C
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