Canonical Allele Identifier: CA505229650
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591652G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526766G>T , CM000681.2:g.7526766G>T GRCh38
NC_000019.9:g.7591652G>T , CM000681.1:g.7591652G>T GRCh37
NC_000019.8:g.7497652G>T NCBI36
NG_015806.1:g.9157G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.411G>T MANE Select ENSP00000264079.5:p.Leu137=
ENST00000264079.10:c.411G>T ENSP00000264079.5:p.Leu137=
ENST00000394321.9:n.491G>T
ENST00000596008.1:n.373G>T
ENST00000598406.1:n.232G>T
ENST00000601003.1:c.411G>T ENSP00000469074.1:p.Leu137=
NM_020533.2:c.411G>T NP_065394.1:p.Leu137=
NM_020533.3:c.411G>T MANE Select NP_065394.1:p.Leu137=
Search 100 bp 5'
Search 100 bp 3'