Canonical Allele Identifier: CA505232309
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146025988
MyVariant Identifiers: chr19:g.7595180A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530294A>G , CM000681.2:g.7530294A>G GRCh38
NC_000019.9:g.7595180A>G , CM000681.1:g.7595180A>G GRCh37
NC_000019.8:g.7501180A>G NCBI36
NG_013374.1:g.1143A>G
NG_015806.1:g.12685A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1368A>G MANE Select ENSP00000264079.5:p.Ser456=
ENST00000264079.10:c.1368A>G ENSP00000264079.5:p.Ser456=
ENST00000394321.9:n.1683A>G
ENST00000594692.1:n.364A>G
ENST00000595860.5:n.551A>G
ENST00000599334.1:c.237-141A>G
NM_020533.2:c.1368A>G NP_065394.1:p.Ser456=
NM_020533.3:c.1368A>G MANE Select NP_065394.1:p.Ser456=
Search 100 bp 5'
Search 100 bp 3'