Canonical Allele Identifier: CA2320962551
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527869T= , CM000681.2:g.7527869T= GRCh38
NC_000019.9:g.7592755T= , CM000681.1:g.7592755T= GRCh37
NC_000019.8:g.7498755T= NCBI36
NG_015806.1:g.10260T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.686T= MANE Select ENSP00000264079.5:p.Val229=
ENST00000264079.10:c.686T= ENSP00000264079.5:p.Val229=
ENST00000394321.9:n.1001T=
ENST00000601003.1:c.577T= ENSP00000469074.1:p.Ser193=
NM_020533.2:c.686T= NP_065394.1:p.Val229=
NM_020533.3:c.686T= MANE Select NP_065394.1:p.Val229=
Search 100 bp 5'
Search 100 bp 3'