Canonical Allele Identifier: CA9138905

Gene: MCOLN1

Linked Data

• dbSNP Id: rs765016879
• ExAC: 19:7592893 G / T
• gnomAD v2: 19-7592893-G-T
• gnomAD v4: 19-7528007-G-T
• MyVariant Identifiers: chr19:g.7592893G>T (hg19) ; chr19:g.7528007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528007G>T , CM000681.2:g.7528007G>T	GRCh38
NC_000019.9:g.7592893G>T , CM000681.1:g.7592893G>T	GRCh37
NC_000019.8:g.7498893G>T	NCBI36
NG_015806.1:g.10398G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.777+47G>T MANE Select	ENSP00000264079.5:n.777+47G>T
ENST00000264079.10:c.777+47G>T	ENSP00000264079.5:n.777+47G>T
ENST00000394321.9:n.1092+47G>T
NM_020533.2:c.777+47G>T	NP_065394.1:n.777+47G>T
NM_020533.3:c.777+47G>T MANE Select	NP_065394.1:n.777+47G>T