Canonical Allele Identifier: CA304852762
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs560450897
gnomAD v3: 19-7526677-A-G
gnomAD v4: 19-7526677-A-G
MyVariant Identifiers: chr19:g.7591563A>G (hg19) chr19:g.7526677A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526677A>G , CM000681.2:g.7526677A>G GRCh38
NC_000019.9:g.7591563A>G , CM000681.1:g.7591563A>G GRCh37
NC_000019.8:g.7497563A>G NCBI36
NG_015806.1:g.9068A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+71A>G MANE Select ENSP00000264079.5:n.405+71A>G
ENST00000264079.10:c.405+71A>G ENSP00000264079.5:n.405+71A>G
ENST00000394321.9:n.485+71A>G
ENST00000596008.1:n.367+71A>G
ENST00000598406.1:n.226+71A>G
ENST00000601003.1:c.405+71A>G ENSP00000469074.1:n.405+71A>G
NM_020533.2:c.405+71A>G NP_065394.1:n.405+71A>G
NM_020533.3:c.405+71A>G MANE Select NP_065394.1:n.405+71A>G
Search 100 bp 5'
Search 100 bp 3'