Canonical Allele Identifier: CA993153845
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146023197
gnomAD v3: 19-7527256-A-T
gnomAD v4: 19-7527256-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527256A>T , CM000681.2:g.7527256A>T GRCh38
NC_000019.9:g.7592142A>T , CM000681.1:g.7592142A>T GRCh37
NC_000019.8:g.7498142A>T NCBI36
NG_015806.1:g.9647A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-264A>T MANE Select ENSP00000264079.5:n.572-264A>T
ENST00000264079.10:c.572-264A>T ENSP00000264079.5:n.572-264A>T
ENST00000394321.9:n.652-264A>T
ENST00000598406.1:n.393-264A>T
ENST00000601003.1:c.571+330A>T ENSP00000469074.1:n.571+330A>T
NM_020533.2:c.572-264A>T NP_065394.1:n.572-264A>T
NM_020533.3:c.572-264A>T MANE Select NP_065394.1:n.572-264A>T
Search 100 bp 5'
Search 100 bp 3'