Canonical Allele Identifier: CA2320962344
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599254020
gnomAD v4: 19-7527516-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527516T>C , CM000681.2:g.7527516T>C GRCh38
NC_000019.9:g.7592402T>C , CM000681.1:g.7592402T>C GRCh37
NC_000019.8:g.7498402T>C NCBI36
NG_015806.1:g.9907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-4T>C MANE Select ENSP00000264079.5:n.572-4T>C
ENST00000264079.10:c.572-4T>C ENSP00000264079.5:n.572-4T>C
ENST00000394321.9:n.652-4T>C
ENST00000598406.1:n.393-4T>C
ENST00000601003.1:c.572-348T>C ENSP00000469074.1:n.572-348T>C
NM_020533.2:c.572-4T>C NP_065394.1:n.572-4T>C
NM_020533.3:c.572-4T>C MANE Select NP_065394.1:n.572-4T>C