Canonical Allele Identifier: CA304855021
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs931390261

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530190C>T , CM000681.2:g.7530190C>T GRCh38
NC_000019.9:g.7595076C>T , CM000681.1:g.7595076C>T GRCh37
NC_000019.8:g.7501076C>T NCBI36
NG_013374.1:g.1039C>T
NG_015806.1:g.12581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-96C>T MANE Select ENSP00000264079.5:n.1360-96C>T
ENST00000264079.10:c.1360-96C>T ENSP00000264079.5:n.1360-96C>T
ENST00000394321.9:n.1675-96C>T
ENST00000594692.1:n.356-96C>T
ENST00000595860.5:n.543-96C>T
ENST00000599334.1:c.237-245C>T
NM_020533.2:c.1360-96C>T NP_065394.1:n.1360-96C>T
NM_020533.3:c.1360-96C>T MANE Select NP_065394.1:n.1360-96C>T