Canonical Allele Identifier: CA2587946793

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7525203-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525203A>C , CM000681.2:g.7525203A>C	GRCh38
NC_000019.9:g.7590089A>C , CM000681.1:g.7590089A>C	GRCh37
NC_000019.8:g.7496089A>C	NCBI36
NG_015806.1:g.7594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+37A>C MANE Select	ENSP00000264079.5:n.237+37A>C
ENST00000264079.10:c.237+37A>C	ENSP00000264079.5:n.237+37A>C
ENST00000394321.9:n.317+37A>C
ENST00000596390.1:n.390A>C
ENST00000601003.1:c.237+37A>C	ENSP00000469074.1:n.237+37A>C
NM_020533.2:c.237+37A>C	NP_065394.1:n.237+37A>C
NM_020533.3:c.237+37A>C MANE Select	NP_065394.1:n.237+37A>C