Canonical Allele Identifier: CA505232010
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1111630
ClinVar RCV Id: RCV001438294
dbSNP Id: rs746629838
gnomAD v4: 19-7525007-G-T
MyVariant Identifiers: chr19:g.7589893G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525007G>T , CM000681.2:g.7525007G>T GRCh38
NC_000019.9:g.7589893G>T , CM000681.1:g.7589893G>T GRCh37
NC_000019.8:g.7495893G>T NCBI36
NG_015806.1:g.7398G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.78G>T MANE Select ENSP00000264079.5:p.Ala26=
ENST00000264079.10:c.78G>T ENSP00000264079.5:p.Ala26=
ENST00000394321.9:n.158G>T
ENST00000596390.1:n.194G>T
ENST00000601003.1:c.78G>T ENSP00000469074.1:p.Ala26=
NM_020533.2:c.78G>T NP_065394.1:p.Ala26=
NM_020533.3:c.78G>T MANE Select NP_065394.1:p.Ala26=
Search 100 bp 5'
Search 100 bp 3'