Canonical Allele Identifier: CA9139160
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs751972886
ExAC: 19:7595279 G / C
gnomAD v2: 19-7595279-G-C
gnomAD v4: 19-7530393-G-C
MyVariant Identifiers: chr19:g.7595279G>C (hg19) chr19:g.7530393G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530393G>C , CM000681.2:g.7530393G>C GRCh38
NC_000019.9:g.7595279G>C , CM000681.1:g.7595279G>C GRCh37
NC_000019.8:g.7501279G>C NCBI36
NG_013374.1:g.1242G>C
NG_015806.1:g.12784G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1467G>C MANE Select ENSP00000264079.5:p.Leu489=
ENST00000264079.10:c.1467G>C ENSP00000264079.5:p.Leu489=
ENST00000394321.9:n.1782G>C
ENST00000594692.1:n.463G>C
ENST00000595860.5:n.650G>C
ENST00000599334.1:c.237-42G>C
NM_020533.2:c.1467G>C NP_065394.1:p.Leu489=
NM_020533.3:c.1467G>C MANE Select NP_065394.1:p.Leu489=
Search 100 bp 5'
Search 100 bp 3'