Canonical Allele Identifier: CA2520585133

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533659A>T , CM000681.2:g.7533659A>T	GRCh38
NC_000019.9:g.7598545A>T , CM000681.1:g.7598545A>T	GRCh37
NC_000019.8:g.7504545A>T	NCBI36
NG_013374.1:g.4508A>T
NG_015806.1:g.16050A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1706+6A>T MANE Select	ENSP00000264079.5:n.1706+6A>T
ENST00000264079.10:c.1706+6A>T	ENSP00000264079.5:n.1706+6A>T
ENST00000394321.9:n.2021+6A>T
ENST00000599334.1:c.434+6A>T
ENST00000601870.1:c.59+6A>T
ENST00000602227.1:n.260+6A>T
NM_020533.2:c.1706+6A>T	NP_065394.1:n.1706+6A>T
NM_020533.3:c.1706+6A>T MANE Select	NP_065394.1:n.1706+6A>T