Canonical Allele Identifier: CA403152395
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524990-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524990G>T , CM000681.2:g.7524990G>T GRCh38
NC_000019.9:g.7589876G>T , CM000681.1:g.7589876G>T GRCh37
NC_000019.8:g.7495876G>T NCBI36
NG_015806.1:g.7381G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.61G>T MANE Select ENSP00000264079.5:p.Gly21Trp
ENST00000264079.10:c.61G>T ENSP00000264079.5:p.Gly21Trp
ENST00000394321.9:n.141G>T
ENST00000596390.1:n.177G>T
ENST00000601003.1:c.61G>T ENSP00000469074.1:p.Gly21Trp
NM_020533.2:c.61G>T NP_065394.1:p.Gly21Trp
NM_020533.3:c.61G>T MANE Select NP_065394.1:p.Gly21Trp