Canonical Allele Identifier: CA505233357
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533573-A-T
MyVariant Identifiers: chr19:g.7598459A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533573A>T , CM000681.2:g.7533573A>T GRCh38
NC_000019.9:g.7598459A>T , CM000681.1:g.7598459A>T GRCh37
NC_000019.8:g.7504459A>T NCBI36
NG_013374.1:g.4422A>T
NG_015806.1:g.15964A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1626A>T MANE Select ENSP00000264079.5:p.Ala542=
ENST00000264079.10:c.1626A>T ENSP00000264079.5:p.Ala542=
ENST00000394321.9:n.1941A>T
ENST00000599334.1:c.354A>T
ENST00000602227.1:n.180A>T
NM_020533.2:c.1626A>T NP_065394.1:p.Ala542=
NM_020533.3:c.1626A>T MANE Select NP_065394.1:p.Ala542=
Search 100 bp 5'
Search 100 bp 3'