Canonical Allele Identifier: CA505403360
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593730G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528844G>T , CM000681.2:g.7528844G>T GRCh38
NC_000019.9:g.7593730G>T , CM000681.1:g.7593730G>T GRCh37
NC_000019.8:g.7499730G>T NCBI36
NG_015806.1:g.11235G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1008G>T MANE Select ENSP00000264079.5:p.Arg336=
ENST00000264079.10:c.1008G>T ENSP00000264079.5:p.Arg336=
ENST00000394321.9:n.1323G>T
ENST00000595860.5:n.191G>T
NM_020533.2:c.1008G>T NP_065394.1:p.Arg336=
NM_020533.3:c.1008G>T MANE Select NP_065394.1:p.Arg336=