Canonical Allele Identifier: CA505233429
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598666G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533780G>C , CM000681.2:g.7533780G>C GRCh38
NC_000019.9:g.7598666G>C , CM000681.1:g.7598666G>C GRCh37
NC_000019.8:g.7504666G>C NCBI36
NG_013374.1:g.4629G>C
NG_015806.1:g.16171G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1728G>C MANE Select ENSP00000264079.5:p.Ser576=
ENST00000264079.10:c.1728G>C ENSP00000264079.5:p.Ser576=
ENST00000394321.9:n.2043G>C
ENST00000599334.1:c.456G>C
ENST00000601870.1:c.81G>C
ENST00000602227.1:n.282G>C
NM_020533.2:c.1728G>C NP_065394.1:p.Ser576=
NM_020533.3:c.1728G>C MANE Select NP_065394.1:p.Ser576=