Canonical Allele Identifier: CA9138675
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs760282559
ExAC: 19:7591327 C / T
gnomAD v2: 19-7591327-C-T
gnomAD v4: 19-7526441-C-T
MyVariant Identifiers: chr19:g.7591327C>T (hg19) chr19:g.7526441C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526441C>T , CM000681.2:g.7526441C>T GRCh38
NC_000019.9:g.7591327C>T , CM000681.1:g.7591327C>T GRCh37
NC_000019.8:g.7497327C>T NCBI36
NG_015806.1:g.8832C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.240C>T MANE Select ENSP00000264079.5:p.Leu80=
ENST00000264079.10:c.240C>T ENSP00000264079.5:p.Leu80=
ENST00000394321.9:n.320C>T
ENST00000596008.1:n.202C>T
ENST00000598406.1:n.61C>T
ENST00000601003.1:c.240C>T ENSP00000469074.1:p.Leu80=
NM_020533.2:c.240C>T NP_065394.1:p.Leu80=
NM_020533.3:c.240C>T MANE Select NP_065394.1:p.Leu80=
Search 100 bp 5'
Search 100 bp 3'