Canonical Allele Identifier: CA2587948471
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527809-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527809G>C , CM000681.2:g.7527809G>C GRCh38
NC_000019.9:g.7592695G>C , CM000681.1:g.7592695G>C GRCh37
NC_000019.8:g.7498695G>C NCBI36
NG_015806.1:g.10200G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-55G>C MANE Select ENSP00000264079.5:n.681-55G>C
ENST00000264079.10:c.681-55G>C ENSP00000264079.5:n.681-55G>C
ENST00000394321.9:n.941G>C
ENST00000601003.1:c.572-55G>C ENSP00000469074.1:n.572-55G>C
NM_020533.2:c.681-55G>C NP_065394.1:n.681-55G>C
NM_020533.3:c.681-55G>C MANE Select NP_065394.1:n.681-55G>C
Search 100 bp 5'
Search 100 bp 3'