Canonical Allele Identifier: CA2587947921
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526742-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526742T>C , CM000681.2:g.7526742T>C GRCh38
NC_000019.9:g.7591628T>C , CM000681.1:g.7591628T>C GRCh37
NC_000019.8:g.7497628T>C NCBI36
NG_015806.1:g.9133T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.406-19T>C MANE Select ENSP00000264079.5:n.406-19T>C
ENST00000264079.10:c.406-19T>C ENSP00000264079.5:n.406-19T>C
ENST00000394321.9:n.486-19T>C
ENST00000596008.1:n.368-19T>C
ENST00000598406.1:n.227-19T>C
ENST00000601003.1:c.406-19T>C ENSP00000469074.1:n.406-19T>C
NM_020533.2:c.406-19T>C NP_065394.1:n.406-19T>C
NM_020533.3:c.406-19T>C MANE Select NP_065394.1:n.406-19T>C