Canonical Allele Identifier: CA505231006
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593103C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528217C>T , CM000681.2:g.7528217C>T GRCh38
NC_000019.9:g.7593103C>T , CM000681.1:g.7593103C>T GRCh37
NC_000019.8:g.7499103C>T NCBI36
NG_015806.1:g.10608C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.837C>T MANE Select ENSP00000264079.5:p.Ala279=
ENST00000264079.10:c.837C>T ENSP00000264079.5:p.Ala279=
ENST00000394321.9:n.1152C>T
NM_020533.2:c.837C>T NP_065394.1:p.Ala279=
NM_020533.3:c.837C>T MANE Select NP_065394.1:p.Ala279=
Search 100 bp 5'
Search 100 bp 3'