Canonical Allele Identifier: CA304856958

Gene: MCOLN1

Linked Data

• dbSNP Id: rs926553956
• gnomAD v4: 19-7533501-G-T
• MyVariant Identifiers: chr19:g.7598387G>T (hg19) ; chr19:g.7533501G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533501G>T , CM000681.2:g.7533501G>T	GRCh38
NC_000019.9:g.7598387G>T , CM000681.1:g.7598387G>T	GRCh37
NC_000019.8:g.7504387G>T	NCBI36
NG_013374.1:g.4350G>T
NG_015806.1:g.15892G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1576-22G>T MANE Select	ENSP00000264079.5:n.1576-22G>T
ENST00000264079.10:c.1576-22G>T	ENSP00000264079.5:n.1576-22G>T
ENST00000394321.9:n.1891-22G>T
ENST00000599334.1:c.304-22G>T
ENST00000602227.1:n.108G>T
NM_020533.2:c.1576-22G>T	NP_065394.1:n.1576-22G>T
NM_020533.3:c.1576-22G>T MANE Select	NP_065394.1:n.1576-22G>T