Canonical Allele Identifier: CA505232319
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7595186C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530300C>A , CM000681.2:g.7530300C>A GRCh38
NC_000019.9:g.7595186C>A , CM000681.1:g.7595186C>A GRCh37
NC_000019.8:g.7501186C>A NCBI36
NG_013374.1:g.1149C>A
NG_015806.1:g.12691C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1374C>A MANE Select ENSP00000264079.5:p.Ser458=
ENST00000264079.10:c.1374C>A ENSP00000264079.5:p.Ser458=
ENST00000394321.9:n.1689C>A
ENST00000594692.1:n.370C>A
ENST00000595860.5:n.557C>A
ENST00000599334.1:c.237-135C>A
NM_020533.2:c.1374C>A NP_065394.1:p.Ser458=
NM_020533.3:c.1374C>A MANE Select NP_065394.1:p.Ser458=
Search 100 bp 5'
Search 100 bp 3'