Canonical Allele Identifier: CA505231908
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524965-C-A
MyVariant Identifiers: chr19:g.7589851C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524965C>A , CM000681.2:g.7524965C>A GRCh38
NC_000019.9:g.7589851C>A , CM000681.1:g.7589851C>A GRCh37
NC_000019.8:g.7495851C>A NCBI36
NG_015806.1:g.7356C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.36C>A MANE Select ENSP00000264079.5:p.Thr12=
ENST00000264079.10:c.36C>A ENSP00000264079.5:p.Thr12=
ENST00000394321.9:n.116C>A
ENST00000596390.1:n.152C>A
ENST00000601003.1:c.36C>A ENSP00000469074.1:p.Thr12=
NM_020533.2:c.36C>A NP_065394.1:p.Thr12=
XR_936293.2:n.16G>T
XR_936294.2:n.16G>T
NM_020533.3:c.36C>A MANE Select NP_065394.1:p.Thr12=
Search 100 bp 5'
Search 100 bp 3'