Canonical Allele Identifier: CA631319456
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1422021332
gnomAD v2: 19-7598880-G-A
gnomAD v3: 19-7533994-G-A
gnomAD v4: 19-7533994-G-A
MyVariant Identifiers: chr19:g.7598880G>A (hg19) chr19:g.7533994G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533994G>A , CM000681.2:g.7533994G>A GRCh38
NC_000019.9:g.7598880G>A , CM000681.1:g.7598880G>A GRCh37
NC_000019.8:g.7504880G>A NCBI36
NG_013374.1:g.4843G>A
NG_015806.1:g.16385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*199G>A MANE Select ENSP00000264079.5:n.*199G>A
ENST00000264079.10:c.*199G>A ENSP00000264079.5:n.*199G>A
ENST00000601870.1:c.169+126G>A
NM_020533.2:c.*199G>A NP_065394.1:n.*199G>A
NM_020533.3:c.*199G>A MANE Select NP_065394.1:n.*199G>A
Search 100 bp 5'
Search 100 bp 3'