Canonical Allele Identifier: CA403085985
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1368932151
gnomAD v2: 19-7593783-G-A
gnomAD v4: 19-7528897-G-A
MyVariant Identifiers: chr19:g.7593783G>A (hg19) chr19:g.7528897G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528897G>A , CM000681.2:g.7528897G>A GRCh38
NC_000019.9:g.7593783G>A , CM000681.1:g.7593783G>A GRCh37
NC_000019.8:g.7499783G>A NCBI36
NG_015806.1:g.11288G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1061G>A MANE Select ENSP00000264079.5:p.Trp354Ter
ENST00000264079.10:c.1061G>A ENSP00000264079.5:p.Trp354Ter
ENST00000394321.9:n.1376G>A
ENST00000595860.5:n.244G>A
NM_020533.2:c.1061G>A NP_065394.1:p.Trp354Ter
NM_020533.3:c.1061G>A MANE Select NP_065394.1:p.Trp354Ter
Search 100 bp 5'
Search 100 bp 3'