Canonical Allele Identifier: CA304857343
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs915073523
gnomAD v3: 19-7533814-G-T
gnomAD v4: 19-7533814-G-T
MyVariant Identifiers: chr19:g.7598700G>T (hg19) chr19:g.7533814G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533814G>T , CM000681.2:g.7533814G>T GRCh38
NC_000019.9:g.7598700G>T , CM000681.1:g.7598700G>T GRCh37
NC_000019.8:g.7504700G>T NCBI36
NG_013374.1:g.4663G>T
NG_015806.1:g.16205G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*19G>T MANE Select ENSP00000264079.5:n.*19G>T
ENST00000264079.10:c.*19G>T ENSP00000264079.5:n.*19G>T
ENST00000394321.9:n.2077G>T
ENST00000599334.1:c.490G>T
ENST00000601870.1:c.115G>T
ENST00000602227.1:n.316G>T
NM_020533.2:c.*19G>T NP_065394.1:n.*19G>T
NM_020533.3:c.*19G>T MANE Select NP_065394.1:n.*19G>T
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