Canonical Allele Identifier: CA403092040
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533774-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533774G>T , CM000681.2:g.7533774G>T GRCh38
NC_000019.9:g.7598660G>T , CM000681.1:g.7598660G>T GRCh37
NC_000019.8:g.7504660G>T NCBI36
NG_013374.1:g.4623G>T
NG_015806.1:g.16165G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1722G>T MANE Select ENSP00000264079.5:p.Glu574Asp
ENST00000264079.10:c.1722G>T ENSP00000264079.5:p.Glu574Asp
ENST00000394321.9:n.2037G>T
ENST00000599334.1:c.450G>T
ENST00000601870.1:c.75G>T
ENST00000602227.1:n.276G>T
NM_020533.2:c.1722G>T NP_065394.1:p.Glu574Asp
NM_020533.3:c.1722G>T MANE Select NP_065394.1:p.Glu574Asp