Canonical Allele Identifier: CA2838223824

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529088C>A , CM000681.2:g.7529088C>A	GRCh38
NC_000019.9:g.7593974C>A , CM000681.1:g.7593974C>A	GRCh37
NC_000019.8:g.7499974C>A	NCBI36
NG_015806.1:g.11479C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1135-13C>A MANE Select	ENSP00000264079.5:n.1135-13C>A
ENST00000264079.10:c.1135-13C>A	ENSP00000264079.5:n.1135-13C>A
ENST00000394321.9:n.1450-13C>A
ENST00000594692.1:n.118C>A
ENST00000595860.5:n.318-13C>A
ENST00000599334.1:c.12-13C>A
NM_020533.2:c.1135-13C>A	NP_065394.1:n.1135-13C>A
NM_020533.3:c.1135-13C>A MANE Select	NP_065394.1:n.1135-13C>A