Canonical Allele Identifier: CA403084997
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528254-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528254C>T , CM000681.2:g.7528254C>T GRCh38
NC_000019.9:g.7593140C>T , CM000681.1:g.7593140C>T GRCh37
NC_000019.8:g.7499140C>T NCBI36
NG_015806.1:g.10645C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.874C>T MANE Select ENSP00000264079.5:p.His292Tyr
ENST00000264079.10:c.874C>T ENSP00000264079.5:p.His292Tyr
ENST00000394321.9:n.1189C>T
NM_020533.2:c.874C>T NP_065394.1:p.His292Tyr
NM_020533.3:c.874C>T MANE Select NP_065394.1:p.His292Tyr