Canonical Allele Identifier: CA9138876
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs774998740
ExAC: 19:7592758 A / G
gnomAD v2: 19-7592758-A-G
gnomAD v3: 19-7527872-A-G
gnomAD v4: 19-7527872-A-G
MyVariant Identifiers: chr19:g.7592758A>G (hg19) chr19:g.7527872A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527872A>G , CM000681.2:g.7527872A>G GRCh38
NC_000019.9:g.7592758A>G , CM000681.1:g.7592758A>G GRCh37
NC_000019.8:g.7498758A>G NCBI36
NG_015806.1:g.10263A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.689A>G MANE Select ENSP00000264079.5:p.Asn230Ser
ENST00000264079.10:c.689A>G ENSP00000264079.5:p.Asn230Ser
ENST00000394321.9:n.1004A>G
ENST00000601003.1:c.580A>G ENSP00000469074.1:p.Met194Val
NM_020533.2:c.689A>G NP_065394.1:p.Asn230Ser
NM_020533.3:c.689A>G MANE Select NP_065394.1:p.Asn230Ser
Search 100 bp 5'
Search 100 bp 3'