Canonical Allele Identifier: CA403088020
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529681G>T , CM000681.2:g.7529681G>T GRCh38
NC_000019.9:g.7594567G>T , CM000681.1:g.7594567G>T GRCh37
NC_000019.8:g.7500567G>T NCBI36
NG_013374.1:g.530G>T
NG_015806.1:g.12072G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1328G>T MANE Select ENSP00000264079.5:p.Gly443Val
ENST00000264079.10:c.1328G>T ENSP00000264079.5:p.Gly443Val
ENST00000394321.9:n.1643G>T
ENST00000594692.1:n.324G>T
ENST00000595860.5:n.511G>T
ENST00000599334.1:c.205G>T
NM_020533.2:c.1328G>T NP_065394.1:p.Gly443Val
NM_020533.3:c.1328G>T MANE Select NP_065394.1:p.Gly443Val