Canonical Allele Identifier: CA2320963701

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530141A= , CM000681.2:g.7530141A=	GRCh38
NC_000019.9:g.7595027A= , CM000681.1:g.7595027A=	GRCh37
NC_000019.8:g.7501027A=	NCBI36
NG_013374.1:g.990A=
NG_015806.1:g.12532A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1360-145A= MANE Select	ENSP00000264079.5:n.1360-145A=
ENST00000264079.10:c.1360-145A=	ENSP00000264079.5:n.1360-145A=
ENST00000394321.9:n.1675-145A=
ENST00000594692.1:n.356-145A=
ENST00000595860.5:n.543-145A=
ENST00000599334.1:c.237-294A=
NM_020533.2:c.1360-145A=	NP_065394.1:n.1360-145A=
NM_020533.3:c.1360-145A= MANE Select	NP_065394.1:n.1360-145A=