Canonical Allele Identifier: CA505229680
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1241907363
gnomAD v2: 19-7591658-G-A
gnomAD v3: 19-7526772-G-A
gnomAD v4: 19-7526772-G-A
MyVariant Identifiers: chr19:g.7591658G>A (hg19) chr19:g.7526772G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526772G>A , CM000681.2:g.7526772G>A GRCh38
NC_000019.9:g.7591658G>A , CM000681.1:g.7591658G>A GRCh37
NC_000019.8:g.7497658G>A NCBI36
NG_015806.1:g.9163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.417G>A MANE Select ENSP00000264079.5:p.Leu139=
ENST00000264079.10:c.417G>A ENSP00000264079.5:p.Leu139=
ENST00000394321.9:n.497G>A
ENST00000596008.1:n.379G>A
ENST00000598406.1:n.238G>A
ENST00000601003.1:c.417G>A ENSP00000469074.1:p.Leu139=
NM_020533.2:c.417G>A NP_065394.1:p.Leu139=
NM_020533.3:c.417G>A MANE Select NP_065394.1:p.Leu139=
Search 100 bp 5'
Search 100 bp 3'