Canonical Allele Identifier: CA403152954
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525130G>C , CM000681.2:g.7525130G>C GRCh38
NC_000019.9:g.7590016G>C , CM000681.1:g.7590016G>C GRCh37
NC_000019.8:g.7496016G>C NCBI36
NG_015806.1:g.7521G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.201G>C MANE Select ENSP00000264079.5:p.Met67Ile
ENST00000264079.10:c.201G>C ENSP00000264079.5:p.Met67Ile
ENST00000394321.9:n.281G>C
ENST00000596390.1:n.317G>C
ENST00000601003.1:c.201G>C ENSP00000469074.1:p.Met67Ile
NM_020533.2:c.201G>C NP_065394.1:p.Met67Ile
NM_020533.3:c.201G>C MANE Select NP_065394.1:p.Met67Ile