Canonical Allele Identifier: CA993156457
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022690312
gnomAD v3: 19-7533265-C-T
gnomAD v4: 19-7533265-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533265C>T , CM000681.2:g.7533265C>T GRCh38
NC_000019.9:g.7598151C>T , CM000681.1:g.7598151C>T GRCh37
NC_000019.8:g.7504151C>T NCBI36
NG_013374.1:g.4114C>T
NG_015806.1:g.15656C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-258C>T MANE Select ENSP00000264079.5:n.1576-258C>T
ENST00000264079.10:c.1576-258C>T ENSP00000264079.5:n.1576-258C>T
ENST00000394321.9:n.1891-258C>T
ENST00000599334.1:c.304-258C>T
NM_020533.2:c.1576-258C>T NP_065394.1:n.1576-258C>T
NM_020533.3:c.1576-258C>T MANE Select NP_065394.1:n.1576-258C>T
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