Canonical Allele Identifier: CA403086321
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593836A>T (hg19) chr19:g.7528950A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528950A>T , CM000681.2:g.7528950A>T GRCh38
NC_000019.9:g.7593836A>T , CM000681.1:g.7593836A>T GRCh37
NC_000019.8:g.7499836A>T NCBI36
NG_015806.1:g.11341A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1114A>T MANE Select ENSP00000264079.5:p.Lys372Ter
ENST00000264079.10:c.1114A>T ENSP00000264079.5:p.Lys372Ter
ENST00000394321.9:n.1429A>T
ENST00000595860.5:n.297A>T
NM_020533.2:c.1114A>T NP_065394.1:p.Lys372Ter
NM_020533.3:c.1114A>T MANE Select NP_065394.1:p.Lys372Ter
Search 100 bp 5'
Search 100 bp 3'