Canonical Allele Identifier: CA2587948802
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528746-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528746G>C , CM000681.2:g.7528746G>C GRCh38
NC_000019.9:g.7593632G>C , CM000681.1:g.7593632G>C GRCh37
NC_000019.8:g.7499632G>C NCBI36
NG_015806.1:g.11137G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.984+43G>C MANE Select ENSP00000264079.5:n.984+43G>C
ENST00000264079.10:c.984+43G>C ENSP00000264079.5:n.984+43G>C
ENST00000394321.9:n.1299+43G>C
ENST00000595860.5:n.93G>C
NM_020533.2:c.984+43G>C NP_065394.1:n.984+43G>C
NM_020533.3:c.984+43G>C MANE Select NP_065394.1:n.984+43G>C
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