Canonical Allele Identifier: CA2587949513
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530185-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530185G>T , CM000681.2:g.7530185G>T GRCh38
NC_000019.9:g.7595071G>T , CM000681.1:g.7595071G>T GRCh37
NC_000019.8:g.7501071G>T NCBI36
NG_013374.1:g.1034G>T
NG_015806.1:g.12576G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-101G>T MANE Select ENSP00000264079.5:n.1360-101G>T
ENST00000264079.10:c.1360-101G>T ENSP00000264079.5:n.1360-101G>T
ENST00000394321.9:n.1675-101G>T
ENST00000594692.1:n.356-101G>T
ENST00000595860.5:n.543-101G>T
ENST00000599334.1:c.237-250G>T
NM_020533.2:c.1360-101G>T NP_065394.1:n.1360-101G>T
NM_020533.3:c.1360-101G>T MANE Select NP_065394.1:n.1360-101G>T
Search 100 bp 5'
Search 100 bp 3'