Canonical Allele Identifier: CA2320965656
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533968T= , CM000681.2:g.7533968T= GRCh38
NC_000019.9:g.7598854T= , CM000681.1:g.7598854T= GRCh37
NC_000019.8:g.7504854T= NCBI36
NG_013374.1:g.4817T=
NG_015806.1:g.16359T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*173T= MANE Select ENSP00000264079.5:n.*173T=
ENST00000264079.10:c.*173T= ENSP00000264079.5:n.*173T=
ENST00000394321.9:n.2231T=
ENST00000599334.1:c.644T=
ENST00000601870.1:c.169+100T=
ENST00000602227.1:n.470T=
NM_020533.2:c.*173T= NP_065394.1:n.*173T=
NM_020533.3:c.*173T= MANE Select NP_065394.1:n.*173T=
Search 100 bp 5'
Search 100 bp 3'