Canonical Allele Identifier: CA9138676
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs763610526
ExAC: 19:7591337 G / A
gnomAD v2: 19-7591337-G-A
gnomAD v3: 19-7526451-G-A
gnomAD v4: 19-7526451-G-A
MyVariant Identifiers: chr19:g.7591337G>A (hg19) chr19:g.7526451G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526451G>A , CM000681.2:g.7526451G>A GRCh38
NC_000019.9:g.7591337G>A , CM000681.1:g.7591337G>A GRCh37
NC_000019.8:g.7497337G>A NCBI36
NG_015806.1:g.8842G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.250G>A MANE Select ENSP00000264079.5:p.Gly84Arg
ENST00000264079.10:c.250G>A ENSP00000264079.5:p.Gly84Arg
ENST00000394321.9:n.330G>A
ENST00000596008.1:n.212G>A
ENST00000598406.1:n.71G>A
ENST00000601003.1:c.250G>A ENSP00000469074.1:p.Gly84Arg
NM_020533.2:c.250G>A NP_065394.1:p.Gly84Arg
NM_020533.3:c.250G>A MANE Select NP_065394.1:p.Gly84Arg
Search 100 bp 5'
Search 100 bp 3'