Canonical Allele Identifier: CA505231703
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7594481C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529595C>G , CM000681.2:g.7529595C>G GRCh38
NC_000019.9:g.7594481C>G , CM000681.1:g.7594481C>G GRCh37
NC_000019.8:g.7500481C>G NCBI36
NG_013374.1:g.444C>G
NG_015806.1:g.11986C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1242C>G MANE Select ENSP00000264079.5:p.Leu414=
ENST00000264079.10:c.1242C>G ENSP00000264079.5:p.Leu414=
ENST00000394321.9:n.1557C>G
ENST00000594692.1:n.238C>G
ENST00000595860.5:n.425C>G
ENST00000599334.1:c.119C>G
NM_020533.2:c.1242C>G NP_065394.1:p.Leu414=
NM_020533.3:c.1242C>G MANE Select NP_065394.1:p.Leu414=
Search 100 bp 5'
Search 100 bp 3'