Canonical Allele Identifier: CA16041991
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371520
ClinVar RCV Id: RCV000412239
dbSNP Id: rs1057517335

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529099A>G , CM000681.2:g.7529099A>G GRCh38
NC_000019.9:g.7593985A>G , CM000681.1:g.7593985A>G GRCh37
NC_000019.8:g.7499985A>G NCBI36
NG_015806.1:g.11490A>G

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.1135-2A>G VV NP_065394.1:p.=
NM_020533.3:c.1135-2A>G VV MANE Preferred NP_065394.1:p.=
ENST00000264079.10:c.1135-2A>G ENSP00000264079.5:p.=
ENST00000394321.9:n.1450-2A>G
ENST00000594692.1:n.129A>G
ENST00000595860.5:n.318-2A>G
ENST00000599334.1:n.12-2A>G