Canonical Allele Identifier: CA993152590

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1305383864
• gnomAD v3: 19-7524750-C-G
• gnomAD v4: 19-7524750-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524750C>G , CM000681.2:g.7524750C>G	GRCh38
NC_000019.9:g.7589636C>G , CM000681.1:g.7589636C>G	GRCh37
NC_000019.8:g.7495636C>G	NCBI36
NG_015806.1:g.7141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-211C>G MANE Select	ENSP00000264079.5:n.32-211C>G
ENST00000264079.10:c.32-211C>G	ENSP00000264079.5:n.32-211C>G
ENST00000394321.9:n.112-211C>G
ENST00000596390.1:n.148-211C>G
ENST00000601003.1:c.32-211C>G	ENSP00000469074.1:n.32-211C>G
NM_020533.2:c.32-211C>G	NP_065394.1:n.32-211C>G
XR_936293.1:n.205G>C
XR_936294.1:n.205G>C
XR_936295.1:n.154+51G>C
XR_936293.2:n.231G>C
XR_936294.2:n.231G>C
NM_020533.3:c.32-211C>G MANE Select	NP_065394.1:n.32-211C>G