Canonical Allele Identifier: CA2813476176

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7534002C>G , CM000681.2:g.7534002C>G	GRCh38
NC_000019.9:g.7598888C>G , CM000681.1:g.7598888C>G	GRCh37
NC_000019.8:g.7504888C>G	NCBI36
NG_013374.1:g.4851C>G
NG_015806.1:g.16393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*207C>G MANE Select	ENSP00000264079.5:n.*207C>G
ENST00000264079.10:c.*207C>G	ENSP00000264079.5:n.*207C>G
ENST00000601870.1:c.169+134C>G
NM_020533.2:c.*207C>G	NP_065394.1:n.*207C>G
NM_020533.3:c.*207C>G MANE Select	NP_065394.1:n.*207C>G