Canonical Allele Identifier: CA403152503
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525015C>T , CM000681.2:g.7525015C>T GRCh38
NC_000019.9:g.7589901C>T , CM000681.1:g.7589901C>T GRCh37
NC_000019.8:g.7495901C>T NCBI36
NG_015806.1:g.7406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.86C>T MANE Select ENSP00000264079.5:p.Ser29Leu
ENST00000264079.10:c.86C>T ENSP00000264079.5:p.Ser29Leu
ENST00000394321.9:n.166C>T
ENST00000596390.1:n.202C>T
ENST00000601003.1:c.86C>T ENSP00000469074.1:p.Ser29Leu
NM_020533.2:c.86C>T NP_065394.1:p.Ser29Leu
NM_020533.3:c.86C>T MANE Select NP_065394.1:p.Ser29Leu