Canonical Allele Identifier: CA505232008
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs746629838
gnomAD v2: 19-7589893-G-C
gnomAD v4: 19-7525007-G-C
MyVariant Identifiers: chr19:g.7589893G>C (hg19) chr19:g.7525007G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525007G>C , CM000681.2:g.7525007G>C GRCh38
NC_000019.9:g.7589893G>C , CM000681.1:g.7589893G>C GRCh37
NC_000019.8:g.7495893G>C NCBI36
NG_015806.1:g.7398G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.78G>C MANE Select ENSP00000264079.5:p.Ala26=
ENST00000264079.10:c.78G>C ENSP00000264079.5:p.Ala26=
ENST00000394321.9:n.158G>C
ENST00000596390.1:n.194G>C
ENST00000601003.1:c.78G>C ENSP00000469074.1:p.Ala26=
NM_020533.2:c.78G>C NP_065394.1:p.Ala26=
NM_020533.3:c.78G>C MANE Select NP_065394.1:p.Ala26=
Search 100 bp 5'
Search 100 bp 3'