Canonical Allele Identifier: CA403086610
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022616480
gnomAD v3: 19-7529111-G-A
gnomAD v4: 19-7529111-G-A
MyVariant Identifiers: chr19:g.7593997G>A (hg19) chr19:g.7529111G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529111G>A , CM000681.2:g.7529111G>A GRCh38
NC_000019.9:g.7593997G>A , CM000681.1:g.7593997G>A GRCh37
NC_000019.8:g.7499997G>A NCBI36
NG_015806.1:g.11502G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1145G>A MANE Select ENSP00000264079.5:p.Ser382Asn
ENST00000264079.10:c.1145G>A ENSP00000264079.5:p.Ser382Asn
ENST00000394321.9:n.1460G>A
ENST00000594692.1:n.141G>A
ENST00000595860.5:n.328G>A
ENST00000599334.1:c.22G>A
NM_020533.2:c.1145G>A NP_065394.1:p.Ser382Asn
NM_020533.3:c.1145G>A MANE Select NP_065394.1:p.Ser382Asn
Search 100 bp 5'
Search 100 bp 3'