Canonical Allele Identifier: CA9139271

Gene: MCOLN1

Linked Data

• dbSNP Id: rs766345720
• ExAC: 19:7598738 A / C
• gnomAD v2: 19-7598738-A-C
• gnomAD v3: 19-7533852-A-C
• gnomAD v4: 19-7533852-A-C
• MyVariant Identifiers: chr19:g.7598738A>C (hg19) ; chr19:g.7533852A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533852A>C , CM000681.2:g.7533852A>C	GRCh38
NC_000019.9:g.7598738A>C , CM000681.1:g.7598738A>C	GRCh37
NC_000019.8:g.7504738A>C	NCBI36
NG_013374.1:g.4701A>C
NG_015806.1:g.16243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*57A>C MANE Select	ENSP00000264079.5:n.*57A>C
ENST00000264079.10:c.*57A>C	ENSP00000264079.5:n.*57A>C
ENST00000394321.9:n.2115A>C
ENST00000599334.1:c.528A>C
ENST00000601870.1:c.153A>C
ENST00000602227.1:n.354A>C
NM_020533.2:c.*57A>C	NP_065394.1:n.*57A>C
NM_020533.3:c.*57A>C MANE Select	NP_065394.1:n.*57A>C