Canonical Allele Identifier: CA631318839
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1324596423
gnomAD v2: 19-7594870-GGACCCCAGCCTGGGACCTGGCCATTCACATAGT-G
gnomAD v3: 19-7529984-GGACCCCAGCCTGGGACCTGGCCATTCACATAGT-G
gnomAD v4: 19-7529984-GGACCCCAGCCTGGGACCTGGCCATTCACATAGT-G
MyVariant Identifiers: chr19:g.7594871_7594903del (hg19) chr19:g.7529985_7530017del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530002_7530034del , CM000681.2:g.7530002_7530034del GRCh38
NC_000019.9:g.7594888_7594920del , CM000681.1:g.7594888_7594920del GRCh37
NC_000019.8:g.7500888_7500920del NCBI36
NG_013374.1:g.851_883del
NG_015806.1:g.12393_12425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-284_1360-252del MANE Select ENSP00000264079.5:n.1360-284_1360-252del
ENST00000264079.10:c.1360-284_1360-252del ENSP00000264079.5:n.1360-284_1360-252del
ENST00000394321.9:n.1675-284_1675-252del
ENST00000594692.1:n.356-284_356-252del
ENST00000595860.5:n.543-284_543-252del
ENST00000599334.1:c.236+290_236+322del
NM_020533.2:c.1360-284_1360-252del NP_065394.1:n.1360-284_1360-252del
NM_020533.3:c.1360-284_1360-252del MANE Select NP_065394.1:n.1360-284_1360-252del
Search 100 bp 5'
Search 100 bp 3'