Canonical Allele Identifier: CA304856852
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs763041097
gnomAD v2: 19-7598142-GC-G
gnomAD v3: 19-7533256-GC-G
gnomAD v4: 19-7533256-GC-G
MyVariant Identifiers: chr19:g.7598143del (hg19) chr19:g.7533257del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533259del , CM000681.2:g.7533259del GRCh38
NC_000019.9:g.7598145del , CM000681.1:g.7598145del GRCh37
NC_000019.8:g.7504145del NCBI36
NG_013374.1:g.4108del
NG_015806.1:g.15650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-264del MANE Select ENSP00000264079.5:n.1576-264del
ENST00000264079.10:c.1576-264del ENSP00000264079.5:n.1576-264del
ENST00000394321.9:n.1891-264del
ENST00000599334.1:c.304-264del
NM_020533.2:c.1576-264del NP_065394.1:n.1576-264del
NM_020533.3:c.1576-264del MANE Select NP_065394.1:n.1576-264del
Search 100 bp 5'
Search 100 bp 3'