Canonical Allele Identifier: CA9138654
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs377437427
ExAC: 19:7590097 C / T
gnomAD v2: 19-7590097-C-T
gnomAD v3: 19-7525211-C-T
gnomAD v4: 19-7525211-C-T
MyVariant Identifiers: chr19:g.7590097C>T (hg19) chr19:g.7525211C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525211C>T , CM000681.2:g.7525211C>T GRCh38
NC_000019.9:g.7590097C>T , CM000681.1:g.7590097C>T GRCh37
NC_000019.8:g.7496097C>T NCBI36
NG_015806.1:g.7602C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.237+45C>T MANE Select ENSP00000264079.5:n.237+45C>T
ENST00000264079.10:c.237+45C>T ENSP00000264079.5:n.237+45C>T
ENST00000394321.9:n.317+45C>T
ENST00000596390.1:n.398C>T
ENST00000601003.1:c.237+45C>T ENSP00000469074.1:n.237+45C>T
NM_020533.2:c.237+45C>T NP_065394.1:n.237+45C>T
NM_020533.3:c.237+45C>T MANE Select NP_065394.1:n.237+45C>T
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