Canonical Allele Identifier: CA403083746
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022595540
MyVariant Identifiers: chr19:g.7592760G>A (hg19) chr19:g.7527874G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527874G>A , CM000681.2:g.7527874G>A GRCh38
NC_000019.9:g.7592760G>A , CM000681.1:g.7592760G>A GRCh37
NC_000019.8:g.7498760G>A NCBI36
NG_015806.1:g.10265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.691G>A MANE Select ENSP00000264079.5:p.Val231Ile
ENST00000264079.10:c.691G>A ENSP00000264079.5:p.Val231Ile
ENST00000394321.9:n.1006G>A
ENST00000601003.1:c.582G>A ENSP00000469074.1:p.Met194Ile
NM_020533.2:c.691G>A NP_065394.1:p.Val231Ile
NM_020533.3:c.691G>A MANE Select NP_065394.1:p.Val231Ile
Search 100 bp 5'
Search 100 bp 3'