Canonical Allele Identifier: CA631462840
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1325249000
gnomAD v2: 19-7592957-A-G
gnomAD v3: 19-7528071-A-G
gnomAD v4: 19-7528071-A-G
MyVariant Identifiers: chr19:g.7592957A>G (hg19) chr19:g.7528071A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528071A>G , CM000681.2:g.7528071A>G GRCh38
NC_000019.9:g.7592957A>G , CM000681.1:g.7592957A>G GRCh37
NC_000019.8:g.7498957A>G NCBI36
NG_015806.1:g.10462A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.778-87A>G MANE Select ENSP00000264079.5:n.778-87A>G
ENST00000264079.10:c.778-87A>G ENSP00000264079.5:n.778-87A>G
ENST00000394321.9:n.1093-87A>G
NM_020533.2:c.778-87A>G NP_065394.1:n.778-87A>G
NM_020533.3:c.778-87A>G MANE Select NP_065394.1:n.778-87A>G
Search 100 bp 5'
Search 100 bp 3'