Canonical Allele Identifier: CA505230376
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146023491
gnomAD v4: 19-7527554-T-G
MyVariant Identifiers: chr19:g.7592440T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527554T>G , CM000681.2:g.7527554T>G GRCh38
NC_000019.9:g.7592440T>G , CM000681.1:g.7592440T>G GRCh37
NC_000019.8:g.7498440T>G NCBI36
NG_015806.1:g.9945T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.606T>G MANE Select ENSP00000264079.5:p.Pro202=
ENST00000264079.10:c.606T>G ENSP00000264079.5:p.Pro202=
ENST00000394321.9:n.686T>G
ENST00000598406.1:n.427T>G
ENST00000601003.1:c.572-310T>G ENSP00000469074.1:n.572-310T>G
NM_020533.2:c.606T>G NP_065394.1:p.Pro202=
NM_020533.3:c.606T>G MANE Select NP_065394.1:p.Pro202=
Search 100 bp 5'
Search 100 bp 3'