Canonical Allele Identifier: CA304857444
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1049428493
gnomAD v2: 19-7598753-T-G
gnomAD v4: 19-7533867-T-G
MyVariant Identifiers: chr19:g.7598753T>G (hg19) chr19:g.7533867T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533867T>G , CM000681.2:g.7533867T>G GRCh38
NC_000019.9:g.7598753T>G , CM000681.1:g.7598753T>G GRCh37
NC_000019.8:g.7504753T>G NCBI36
NG_013374.1:g.4716T>G
NG_015806.1:g.16258T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*72T>G MANE Select ENSP00000264079.5:n.*72T>G
ENST00000264079.10:c.*72T>G ENSP00000264079.5:n.*72T>G
ENST00000394321.9:n.2130T>G
ENST00000599334.1:c.543T>G
ENST00000601870.1:c.168T>G
ENST00000602227.1:n.369T>G
NM_020533.2:c.*72T>G NP_065394.1:n.*72T>G
NM_020533.3:c.*72T>G MANE Select NP_065394.1:n.*72T>G
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