Canonical Allele Identifier: CA2320962445
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022592150
gnomAD v4: 19-7527695-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527695G>T , CM000681.2:g.7527695G>T GRCh38
NC_000019.9:g.7592581G>T , CM000681.1:g.7592581G>T GRCh37
NC_000019.8:g.7498581G>T NCBI36
NG_015806.1:g.10086G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.680+67G>T MANE Select ENSP00000264079.5:n.680+67G>T
ENST00000264079.10:c.680+67G>T ENSP00000264079.5:n.680+67G>T
ENST00000394321.9:n.827G>T
ENST00000598406.1:n.568G>T
ENST00000601003.1:c.572-169G>T ENSP00000469074.1:n.572-169G>T
NM_020533.2:c.680+67G>T NP_065394.1:n.680+67G>T
NM_020533.3:c.680+67G>T MANE Select NP_065394.1:n.680+67G>T
Search 100 bp 5'
Search 100 bp 3'