Canonical Allele Identifier: CA2587947819
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526341-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526341G>A , CM000681.2:g.7526341G>A GRCh38
NC_000019.9:g.7591227G>A , CM000681.1:g.7591227G>A GRCh37
NC_000019.8:g.7497227G>A NCBI36
NG_015806.1:g.8732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.238-98G>A MANE Select ENSP00000264079.5:n.238-98G>A
ENST00000264079.10:c.238-98G>A ENSP00000264079.5:n.238-98G>A
ENST00000394321.9:n.318-98G>A
ENST00000596008.1:n.102G>A
ENST00000601003.1:c.238-98G>A ENSP00000469074.1:n.238-98G>A
NM_020533.2:c.238-98G>A NP_065394.1:n.238-98G>A
NM_020533.3:c.238-98G>A MANE Select NP_065394.1:n.238-98G>A
Search 100 bp 5'
Search 100 bp 3'