Canonical Allele Identifier: CA505226305
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1673676
ClinVar RCV Id: RCV002214019
dbSNP Id: rs2146022404
MyVariant Identifiers: chr19:g.7591339G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526453G>T , CM000681.2:g.7526453G>T GRCh38
NC_000019.9:g.7591339G>T , CM000681.1:g.7591339G>T GRCh37
NC_000019.8:g.7497339G>T NCBI36
NG_015806.1:g.8844G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.252G>T MANE Select ENSP00000264079.5:p.Gly84=
ENST00000264079.10:c.252G>T ENSP00000264079.5:p.Gly84=
ENST00000394321.9:n.332G>T
ENST00000596008.1:n.214G>T
ENST00000598406.1:n.73G>T
ENST00000601003.1:c.252G>T ENSP00000469074.1:p.Gly84=
NM_020533.2:c.252G>T NP_065394.1:p.Gly84=
NM_020533.3:c.252G>T MANE Select NP_065394.1:p.Gly84=
Search 100 bp 5'
Search 100 bp 3'