Canonical Allele Identifier: CA403152543
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs767506296
gnomAD v4: 19-7525026-C-G
MyVariant Identifiers: chr19:g.7589912C>G (hg19) chr19:g.7525026C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525026C>G , CM000681.2:g.7525026C>G GRCh38
NC_000019.9:g.7589912C>G , CM000681.1:g.7589912C>G GRCh37
NC_000019.8:g.7495912C>G NCBI36
NG_015806.1:g.7417C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.97C>G MANE Select ENSP00000264079.5:p.Pro33Ala
ENST00000264079.10:c.97C>G ENSP00000264079.5:p.Pro33Ala
ENST00000394321.9:n.177C>G
ENST00000596390.1:n.213C>G
ENST00000601003.1:c.97C>G ENSP00000469074.1:p.Pro33Ala
NM_020533.2:c.97C>G NP_065394.1:p.Pro33Ala
NM_020533.3:c.97C>G MANE Select NP_065394.1:p.Pro33Ala
Search 100 bp 5'
Search 100 bp 3'