Canonical Allele Identifier: CA2582317618
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v3: 19-7533153-T-TG
gnomAD v4: 19-7533153-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533154dup , CM000681.2:g.7533154dup GRCh38
NC_000019.9:g.7598040dup , CM000681.1:g.7598040dup GRCh37
NC_000019.8:g.7504040dup NCBI36
NG_013374.1:g.4003dup
NG_015806.1:g.15545dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-369dup MANE Select ENSP00000264079.5:n.1576-369dup
ENST00000264079.10:c.1576-369dup ENSP00000264079.5:n.1576-369dup
ENST00000394321.9:n.1891-369dup
ENST00000599334.1:c.304-369dup
NM_020533.2:c.1576-369dup NP_065394.1:n.1576-369dup
NM_020533.3:c.1576-369dup MANE Select NP_065394.1:n.1576-369dup
Search 100 bp 5'
Search 100 bp 3'