Canonical Allele Identifier: CA2587947885
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526673-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526673G>T , CM000681.2:g.7526673G>T GRCh38
NC_000019.9:g.7591559G>T , CM000681.1:g.7591559G>T GRCh37
NC_000019.8:g.7497559G>T NCBI36
NG_015806.1:g.9064G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+67G>T MANE Select ENSP00000264079.5:n.405+67G>T
ENST00000264079.10:c.405+67G>T ENSP00000264079.5:n.405+67G>T
ENST00000394321.9:n.485+67G>T
ENST00000596008.1:n.367+67G>T
ENST00000598406.1:n.226+67G>T
ENST00000601003.1:c.405+67G>T ENSP00000469074.1:n.405+67G>T
NM_020533.2:c.405+67G>T NP_065394.1:n.405+67G>T
NM_020533.3:c.405+67G>T MANE Select NP_065394.1:n.405+67G>T