Canonical Allele Identifier: CA2576596921

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7526654-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526654C>G , CM000681.2:g.7526654C>G	GRCh38
NC_000019.9:g.7591540C>G , CM000681.1:g.7591540C>G	GRCh37
NC_000019.8:g.7497540C>G	NCBI36
NG_015806.1:g.9045C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.405+48C>G MANE Select	ENSP00000264079.5:n.405+48C>G
ENST00000264079.10:c.405+48C>G	ENSP00000264079.5:n.405+48C>G
ENST00000394321.9:n.485+48C>G
ENST00000596008.1:n.367+48C>G
ENST00000598406.1:n.226+48C>G
ENST00000601003.1:c.405+48C>G	ENSP00000469074.1:n.405+48C>G
NM_020533.2:c.405+48C>G	NP_065394.1:n.405+48C>G
NM_020533.3:c.405+48C>G MANE Select	NP_065394.1:n.405+48C>G