Canonical Allele Identifier: CA2320963594

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022631183

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529991A>C , CM000681.2:g.7529991A>C	GRCh38
NC_000019.9:g.7594877A>C , CM000681.1:g.7594877A>C	GRCh37
NC_000019.8:g.7500877A>C	NCBI36
NG_013374.1:g.840A>C
NG_015806.1:g.12382A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+279A>C MANE Select	ENSP00000264079.5:n.1359+279A>C
ENST00000264079.10:c.1359+279A>C	ENSP00000264079.5:n.1359+279A>C
ENST00000394321.9:n.1674+279A>C
ENST00000594692.1:n.355+279A>C
ENST00000595860.5:n.542+279A>C
ENST00000599334.1:c.236+279A>C
NM_020533.2:c.1359+279A>C	NP_065394.1:n.1359+279A>C
NM_020533.3:c.1359+279A>C MANE Select	NP_065394.1:n.1359+279A>C