Canonical Allele Identifier: CA403087783
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529653G>T , CM000681.2:g.7529653G>T GRCh38
NC_000019.9:g.7594539G>T , CM000681.1:g.7594539G>T GRCh37
NC_000019.8:g.7500539G>T NCBI36
NG_013374.1:g.502G>T
NG_015806.1:g.12044G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1300G>T MANE Select ENSP00000264079.5:p.Val434Phe
ENST00000264079.10:c.1300G>T ENSP00000264079.5:p.Val434Phe
ENST00000394321.9:n.1615G>T
ENST00000594692.1:n.296G>T
ENST00000595860.5:n.483G>T
ENST00000599334.1:c.177G>T
NM_020533.2:c.1300G>T NP_065394.1:p.Val434Phe
NM_020533.3:c.1300G>T MANE Select NP_065394.1:p.Val434Phe