Canonical Allele Identifier: CA2320962963
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022610231
gnomAD v4: 19-7528755-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528755C>T , CM000681.2:g.7528755C>T GRCh38
NC_000019.9:g.7593641C>T , CM000681.1:g.7593641C>T GRCh37
NC_000019.8:g.7499641C>T NCBI36
NG_015806.1:g.11146C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.984+52C>T MANE Select ENSP00000264079.5:n.984+52C>T
ENST00000264079.10:c.984+52C>T ENSP00000264079.5:n.984+52C>T
ENST00000394321.9:n.1299+52C>T
ENST00000595860.5:n.102C>T
NM_020533.2:c.984+52C>T NP_065394.1:n.984+52C>T
NM_020533.3:c.984+52C>T MANE Select NP_065394.1:n.984+52C>T
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