Canonical Allele Identifier: CA403083837

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592770A>T (hg19) ; chr19:g.7527884A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527884A>T , CM000681.2:g.7527884A>T	GRCh38
NC_000019.9:g.7592770A>T , CM000681.1:g.7592770A>T	GRCh37
NC_000019.8:g.7498770A>T	NCBI36
NG_015806.1:g.10275A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.701A>T MANE Select	ENSP00000264079.5:p.His234Leu
ENST00000264079.10:c.701A>T	ENSP00000264079.5:p.His234Leu
ENST00000394321.9:n.1016A>T
ENST00000601003.1:c.592A>T	ENSP00000469074.1:p.Thr198Ser
NM_020533.2:c.701A>T	NP_065394.1:p.His234Leu
NM_020533.3:c.701A>T MANE Select	NP_065394.1:p.His234Leu