Canonical Allele Identifier: CA2320962569
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527916C= , CM000681.2:g.7527916C= GRCh38
NC_000019.9:g.7592802C= , CM000681.1:g.7592802C= GRCh37
NC_000019.8:g.7498802C= NCBI36
NG_015806.1:g.10307C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.733C= MANE Select ENSP00000264079.5:p.Leu245=
ENST00000264079.10:c.733C= ENSP00000264079.5:p.Leu245=
ENST00000394321.9:n.1048C=
NM_020533.2:c.733C= NP_065394.1:p.Leu245=
NM_020533.3:c.733C= MANE Select NP_065394.1:p.Leu245=
Search 100 bp 5'
Search 100 bp 3'