Canonical Allele Identifier: CA403091518
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs766172784
gnomAD v4: 19-7533575-A-T
MyVariant Identifiers: chr19:g.7598461A>T (hg19) chr19:g.7533575A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533575A>T , CM000681.2:g.7533575A>T GRCh38
NC_000019.9:g.7598461A>T , CM000681.1:g.7598461A>T GRCh37
NC_000019.8:g.7504461A>T NCBI36
NG_013374.1:g.4424A>T
NG_015806.1:g.15966A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1628A>T MANE Select ENSP00000264079.5:p.Gln543Leu
ENST00000264079.10:c.1628A>T ENSP00000264079.5:p.Gln543Leu
ENST00000394321.9:n.1943A>T
ENST00000599334.1:c.356A>T
ENST00000602227.1:n.182A>T
NM_020533.2:c.1628A>T NP_065394.1:p.Gln543Leu
NM_020533.3:c.1628A>T MANE Select NP_065394.1:p.Gln543Leu
Search 100 bp 5'
Search 100 bp 3'