Canonical Allele Identifier: CA2320963053
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528946C= , CM000681.2:g.7528946C= GRCh38
NC_000019.9:g.7593832C= , CM000681.1:g.7593832C= GRCh37
NC_000019.8:g.7499832C= NCBI36
NG_015806.1:g.11337C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1110C= MANE Select ENSP00000264079.5:p.Ile370=
ENST00000264079.10:c.1110C= ENSP00000264079.5:p.Ile370=
ENST00000394321.9:n.1425C=
ENST00000595860.5:n.293C=
NM_020533.2:c.1110C= NP_065394.1:p.Ile370=
NM_020533.3:c.1110C= MANE Select NP_065394.1:p.Ile370=