Canonical Allele Identifier: CA2587946745
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524894-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524894T>C , CM000681.2:g.7524894T>C GRCh38
NC_000019.9:g.7589780T>C , CM000681.1:g.7589780T>C GRCh37
NC_000019.8:g.7495780T>C NCBI36
NG_015806.1:g.7285T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-67T>C MANE Select ENSP00000264079.5:n.32-67T>C
ENST00000264079.10:c.32-67T>C ENSP00000264079.5:n.32-67T>C
ENST00000394321.9:n.112-67T>C
ENST00000596390.1:n.148-67T>C
ENST00000601003.1:c.32-67T>C ENSP00000469074.1:n.32-67T>C
NM_020533.2:c.32-67T>C NP_065394.1:n.32-67T>C
XR_936293.1:n.61A>G
XR_936294.1:n.61A>G
XR_936295.1:n.61A>G
XR_936293.2:n.87A>G
XR_936294.2:n.87A>G
NM_020533.3:c.32-67T>C MANE Select NP_065394.1:n.32-67T>C