Canonical Allele Identifier: CA2582317621
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146030973
gnomAD v3: 19-7533929-T-G
gnomAD v4: 19-7533929-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533929T>G , CM000681.2:g.7533929T>G GRCh38
NC_000019.9:g.7598815T>G , CM000681.1:g.7598815T>G GRCh37
NC_000019.8:g.7504815T>G NCBI36
NG_013374.1:g.4778T>G
NG_015806.1:g.16320T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*134T>G MANE Select ENSP00000264079.5:n.*134T>G
ENST00000264079.10:c.*134T>G ENSP00000264079.5:n.*134T>G
ENST00000394321.9:n.2192T>G
ENST00000599334.1:c.605T>G
ENST00000601870.1:c.169+61T>G
ENST00000602227.1:n.431T>G
NM_020533.2:c.*134T>G NP_065394.1:n.*134T>G
NM_020533.3:c.*134T>G MANE Select NP_065394.1:n.*134T>G
Search 100 bp 5'
Search 100 bp 3'