Canonical Allele Identifier: CA2320961898

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1444873461

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526665A>G , CM000681.2:g.7526665A>G	GRCh38
NC_000019.9:g.7591551A>G , CM000681.1:g.7591551A>G	GRCh37
NC_000019.8:g.7497551A>G	NCBI36
NG_015806.1:g.9056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+59A>G MANE Select	ENSP00000264079.5:n.405+59A>G
ENST00000264079.10:c.405+59A>G	ENSP00000264079.5:n.405+59A>G
ENST00000394321.9:n.485+59A>G
ENST00000596008.1:n.367+59A>G
ENST00000598406.1:n.226+59A>G
ENST00000601003.1:c.405+59A>G	ENSP00000469074.1:n.405+59A>G
NM_020533.2:c.405+59A>G	NP_065394.1:n.405+59A>G
NM_020533.3:c.405+59A>G MANE Select	NP_065394.1:n.405+59A>G