Canonical Allele Identifier: CA505230834
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022596783
gnomAD v4: 19-7527960-G-C
MyVariant Identifiers: chr19:g.7592846G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527960G>C , CM000681.2:g.7527960G>C GRCh38
NC_000019.9:g.7592846G>C , CM000681.1:g.7592846G>C GRCh37
NC_000019.8:g.7498846G>C NCBI36
NG_015806.1:g.10351G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777G>C MANE Select ENSP00000264079.5:p.Leu259=
ENST00000264079.10:c.777G>C ENSP00000264079.5:p.Leu259=
ENST00000394321.9:n.1092G>C
NM_020533.2:c.777G>C NP_065394.1:p.Leu259=
NM_020533.3:c.777G>C MANE Select NP_065394.1:p.Leu259=
Search 100 bp 5'
Search 100 bp 3'