Canonical Allele Identifier: CA9138984
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs773120158
ExAC: 19:7593639 G / T
gnomAD v2: 19-7593639-G-T
gnomAD v4: 19-7528753-G-T
MyVariant Identifiers: chr19:g.7593639G>T (hg19) chr19:g.7528753G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528753G>T , CM000681.2:g.7528753G>T GRCh38
NC_000019.9:g.7593639G>T , CM000681.1:g.7593639G>T GRCh37
NC_000019.8:g.7499639G>T NCBI36
NG_015806.1:g.11144G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.984+50G>T MANE Select ENSP00000264079.5:n.984+50G>T
ENST00000264079.10:c.984+50G>T ENSP00000264079.5:n.984+50G>T
ENST00000394321.9:n.1299+50G>T
ENST00000595860.5:n.100G>T
NM_020533.2:c.984+50G>T NP_065394.1:n.984+50G>T
NM_020533.3:c.984+50G>T MANE Select NP_065394.1:n.984+50G>T
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