Canonical Allele Identifier: CA403084139

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592812A>T (hg19) ; chr19:g.7527926A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527926A>T , CM000681.2:g.7527926A>T	GRCh38
NC_000019.9:g.7592812A>T , CM000681.1:g.7592812A>T	GRCh37
NC_000019.8:g.7498812A>T	NCBI36
NG_015806.1:g.10317A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.743A>T MANE Select	ENSP00000264079.5:p.Asn248Ile
ENST00000264079.10:c.743A>T	ENSP00000264079.5:p.Asn248Ile
ENST00000394321.9:n.1058A>T
NM_020533.2:c.743A>T	NP_065394.1:p.Asn248Ile
NM_020533.3:c.743A>T MANE Select	NP_065394.1:p.Asn248Ile