Canonical Allele Identifier: CA2587946754
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524907-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524907G>T , CM000681.2:g.7524907G>T GRCh38
NC_000019.9:g.7589793G>T , CM000681.1:g.7589793G>T GRCh37
NC_000019.8:g.7495793G>T NCBI36
NG_015806.1:g.7298G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-54G>T MANE Select ENSP00000264079.5:n.32-54G>T
ENST00000264079.10:c.32-54G>T ENSP00000264079.5:n.32-54G>T
ENST00000394321.9:n.112-54G>T
ENST00000596390.1:n.148-54G>T
ENST00000601003.1:c.32-54G>T ENSP00000469074.1:n.32-54G>T
NM_020533.2:c.32-54G>T NP_065394.1:n.32-54G>T
XR_936293.1:n.48C>A
XR_936294.1:n.48C>A
XR_936295.1:n.48C>A
XR_936293.2:n.74C>A
XR_936294.2:n.74C>A
NM_020533.3:c.32-54G>T MANE Select NP_065394.1:n.32-54G>T