Canonical Allele Identifier: CA2587946791

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2146021439
• gnomAD v4: 19-7525195-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525195T>C , CM000681.2:g.7525195T>C	GRCh38
NC_000019.9:g.7590081T>C , CM000681.1:g.7590081T>C	GRCh37
NC_000019.8:g.7496081T>C	NCBI36
NG_015806.1:g.7586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+29T>C MANE Select	ENSP00000264079.5:n.237+29T>C
ENST00000264079.10:c.237+29T>C	ENSP00000264079.5:n.237+29T>C
ENST00000394321.9:n.317+29T>C
ENST00000596390.1:n.382T>C
ENST00000601003.1:c.237+29T>C	ENSP00000469074.1:n.237+29T>C
NM_020533.2:c.237+29T>C	NP_065394.1:n.237+29T>C
NM_020533.3:c.237+29T>C MANE Select	NP_065394.1:n.237+29T>C