Canonical Allele Identifier: CA884200009

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1444873461
• gnomAD v4: 19-7526665-A-T
• MyVariant Identifiers: chr19:g.7591551A>T (hg19) ; chr19:g.7526665A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526665A>T , CM000681.2:g.7526665A>T	GRCh38
NC_000019.9:g.7591551A>T , CM000681.1:g.7591551A>T	GRCh37
NC_000019.8:g.7497551A>T	NCBI36
NG_015806.1:g.9056A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.405+59A>T MANE Select	ENSP00000264079.5:n.405+59A>T
ENST00000264079.10:c.405+59A>T	ENSP00000264079.5:n.405+59A>T
ENST00000394321.9:n.485+59A>T
ENST00000596008.1:n.367+59A>T
ENST00000598406.1:n.226+59A>T
ENST00000601003.1:c.405+59A>T	ENSP00000469074.1:n.405+59A>T
NM_020533.2:c.405+59A>T	NP_065394.1:n.405+59A>T
NM_020533.3:c.405+59A>T MANE Select	NP_065394.1:n.405+59A>T