Canonical Allele Identifier: CA403092049
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533775C>T , CM000681.2:g.7533775C>T GRCh38
NC_000019.9:g.7598661C>T , CM000681.1:g.7598661C>T GRCh37
NC_000019.8:g.7504661C>T NCBI36
NG_013374.1:g.4624C>T
NG_015806.1:g.16166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1723C>T MANE Select ENSP00000264079.5:p.His575Tyr
ENST00000264079.10:c.1723C>T ENSP00000264079.5:p.His575Tyr
ENST00000394321.9:n.2038C>T
ENST00000599334.1:c.451C>T
ENST00000601870.1:c.76C>T
ENST00000602227.1:n.277C>T
NM_020533.2:c.1723C>T NP_065394.1:p.His575Tyr
NM_020533.3:c.1723C>T MANE Select NP_065394.1:p.His575Tyr