Canonical Allele Identifier: CA2587948553
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528080-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528080T>C , CM000681.2:g.7528080T>C GRCh38
NC_000019.9:g.7592966T>C , CM000681.1:g.7592966T>C GRCh37
NC_000019.8:g.7498966T>C NCBI36
NG_015806.1:g.10471T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.778-78T>C MANE Select ENSP00000264079.5:n.778-78T>C
ENST00000264079.10:c.778-78T>C ENSP00000264079.5:n.778-78T>C
ENST00000394321.9:n.1093-78T>C
NM_020533.2:c.778-78T>C NP_065394.1:n.778-78T>C
NM_020533.3:c.778-78T>C MANE Select NP_065394.1:n.778-78T>C