Canonical Allele Identifier: CA2576596941

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526973G>T , CM000681.2:g.7526973G>T	GRCh38
NC_000019.9:g.7591859G>T , CM000681.1:g.7591859G>T	GRCh37
NC_000019.8:g.7497859G>T	NCBI36
NG_015806.1:g.9364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+47G>T MANE Select	ENSP00000264079.5:n.571+47G>T
ENST00000264079.10:c.571+47G>T	ENSP00000264079.5:n.571+47G>T
ENST00000394321.9:n.651+47G>T
ENST00000596008.1:n.580G>T
ENST00000598406.1:n.392+47G>T
ENST00000601003.1:c.571+47G>T	ENSP00000469074.1:n.571+47G>T
NM_020533.2:c.571+47G>T	NP_065394.1:n.571+47G>T
NM_020533.3:c.571+47G>T MANE Select	NP_065394.1:n.571+47G>T