Canonical Allele Identifier: CA2320962772
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022603308

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528359A>T , CM000681.2:g.7528359A>T GRCh38
NC_000019.9:g.7593245A>T , CM000681.1:g.7593245A>T GRCh37
NC_000019.8:g.7499245A>T NCBI36
NG_015806.1:g.10750A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+102A>T MANE Select ENSP00000264079.5:n.877+102A>T
ENST00000264079.10:c.877+102A>T ENSP00000264079.5:n.877+102A>T
ENST00000394321.9:n.1192+102A>T
NM_020533.2:c.877+102A>T NP_065394.1:n.877+102A>T
NM_020533.3:c.877+102A>T MANE Select NP_065394.1:n.877+102A>T