Canonical Allele Identifier: CA631462808
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs777513647
gnomAD v2: 19-7592617-G-T
gnomAD v3: 19-7527731-G-T
gnomAD v4: 19-7527731-G-T
MyVariant Identifiers: chr19:g.7592617G>T (hg19) chr19:g.7527731G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527731G>T , CM000681.2:g.7527731G>T GRCh38
NC_000019.9:g.7592617G>T , CM000681.1:g.7592617G>T GRCh37
NC_000019.8:g.7498617G>T NCBI36
NG_015806.1:g.10122G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+103G>T MANE Select ENSP00000264079.5:n.680+103G>T
ENST00000264079.10:c.680+103G>T ENSP00000264079.5:n.680+103G>T
ENST00000394321.9:n.863G>T
ENST00000598406.1:n.604G>T
ENST00000601003.1:c.572-133G>T ENSP00000469074.1:n.572-133G>T
NM_020533.2:c.680+103G>T NP_065394.1:n.680+103G>T
NM_020533.3:c.680+103G>T MANE Select NP_065394.1:n.680+103G>T
Search 100 bp 5'
Search 100 bp 3'