Canonical Allele Identifier: CA2576596927

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7526677-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526677A>T , CM000681.2:g.7526677A>T	GRCh38
NC_000019.9:g.7591563A>T , CM000681.1:g.7591563A>T	GRCh37
NC_000019.8:g.7497563A>T	NCBI36
NG_015806.1:g.9068A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+71A>T MANE Select	ENSP00000264079.5:n.405+71A>T
ENST00000264079.10:c.405+71A>T	ENSP00000264079.5:n.405+71A>T
ENST00000394321.9:n.485+71A>T
ENST00000596008.1:n.367+71A>T
ENST00000598406.1:n.226+71A>T
ENST00000601003.1:c.405+71A>T	ENSP00000469074.1:n.405+71A>T
NM_020533.2:c.405+71A>T	NP_065394.1:n.405+71A>T
NM_020533.3:c.405+71A>T MANE Select	NP_065394.1:n.405+71A>T