Canonical Allele Identifier: CA2576596879

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524908G>C , CM000681.2:g.7524908G>C	GRCh38
NC_000019.9:g.7589794G>C , CM000681.1:g.7589794G>C	GRCh37
NC_000019.8:g.7495794G>C	NCBI36
NG_015806.1:g.7299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-53G>C MANE Select	ENSP00000264079.5:n.32-53G>C
ENST00000264079.10:c.32-53G>C	ENSP00000264079.5:n.32-53G>C
ENST00000394321.9:n.112-53G>C
ENST00000596390.1:n.148-53G>C
ENST00000601003.1:c.32-53G>C	ENSP00000469074.1:n.32-53G>C
NM_020533.2:c.32-53G>C	NP_065394.1:n.32-53G>C
XR_936293.1:n.47C>G
XR_936294.1:n.47C>G
XR_936295.1:n.47C>G
XR_936293.2:n.73C>G
XR_936294.2:n.73C>G
NM_020533.3:c.32-53G>C MANE Select	NP_065394.1:n.32-53G>C