Canonical Allele Identifier: CA884206146
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1208397824
gnomAD v4: 19-7533968-T-C
MyVariant Identifiers: chr19:g.7598854T>C (hg19) chr19:g.7533968T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533968T>C , CM000681.2:g.7533968T>C GRCh38
NC_000019.9:g.7598854T>C , CM000681.1:g.7598854T>C GRCh37
NC_000019.8:g.7504854T>C NCBI36
NG_013374.1:g.4817T>C
NG_015806.1:g.16359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*173T>C MANE Select ENSP00000264079.5:n.*173T>C
ENST00000264079.10:c.*173T>C ENSP00000264079.5:n.*173T>C
ENST00000394321.9:n.2231T>C
ENST00000599334.1:c.644T>C
ENST00000601870.1:c.169+100T>C
ENST00000602227.1:n.470T>C
NM_020533.2:c.*173T>C NP_065394.1:n.*173T>C
NM_020533.3:c.*173T>C MANE Select NP_065394.1:n.*173T>C
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