Canonical Allele Identifier: CA2320965520
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022708166
gnomAD v4: 19-7533729-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533729A>T , CM000681.2:g.7533729A>T GRCh38
NC_000019.9:g.7598615A>T , CM000681.1:g.7598615A>T GRCh37
NC_000019.8:g.7504615A>T NCBI36
NG_013374.1:g.4578A>T
NG_015806.1:g.16120A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1707-30A>T MANE Select ENSP00000264079.5:n.1707-30A>T
ENST00000264079.10:c.1707-30A>T ENSP00000264079.5:n.1707-30A>T
ENST00000394321.9:n.2022-30A>T
ENST00000599334.1:c.435-30A>T
ENST00000601870.1:c.60-30A>T
ENST00000602227.1:n.261-30A>T
NM_020533.2:c.1707-30A>T NP_065394.1:n.1707-30A>T
NM_020533.3:c.1707-30A>T MANE Select NP_065394.1:n.1707-30A>T
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