Canonical Allele Identifier: CA631318830

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1219886150
• gnomAD v2: 19-7594773-A-G
• gnomAD v3: 19-7529887-A-G
• gnomAD v4: 19-7529887-A-G
• MyVariant Identifiers: chr19:g.7594773A>G (hg19) ; chr19:g.7529887A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529887A>G , CM000681.2:g.7529887A>G	GRCh38
NC_000019.9:g.7594773A>G , CM000681.1:g.7594773A>G	GRCh37
NC_000019.8:g.7500773A>G	NCBI36
NG_013374.1:g.736A>G
NG_015806.1:g.12278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+175A>G MANE Select	ENSP00000264079.5:n.1359+175A>G
ENST00000264079.10:c.1359+175A>G	ENSP00000264079.5:n.1359+175A>G
ENST00000394321.9:n.1674+175A>G
ENST00000594692.1:n.355+175A>G
ENST00000595860.5:n.542+175A>G
ENST00000599334.1:c.236+175A>G
NM_020533.2:c.1359+175A>G	NP_065394.1:n.1359+175A>G
NM_020533.3:c.1359+175A>G MANE Select	NP_065394.1:n.1359+175A>G