Canonical Allele Identifier: CA2320963688
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599255963
gnomAD v3: 19-7530113-G-C
gnomAD v4: 19-7530113-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530113G>C , CM000681.2:g.7530113G>C GRCh38
NC_000019.9:g.7594999G>C , CM000681.1:g.7594999G>C GRCh37
NC_000019.8:g.7500999G>C NCBI36
NG_013374.1:g.962G>C
NG_015806.1:g.12504G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-173G>C MANE Select ENSP00000264079.5:n.1360-173G>C
ENST00000264079.10:c.1360-173G>C ENSP00000264079.5:n.1360-173G>C
ENST00000394321.9:n.1675-173G>C
ENST00000594692.1:n.356-173G>C
ENST00000595860.5:n.543-173G>C
ENST00000599334.1:c.237-322G>C
NM_020533.2:c.1360-173G>C NP_065394.1:n.1360-173G>C
NM_020533.3:c.1360-173G>C MANE Select NP_065394.1:n.1360-173G>C
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