Canonical Allele Identifier: CA993156698
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599259197
gnomAD v3: 19-7533997-G-C
gnomAD v4: 19-7533997-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533997G>C , CM000681.2:g.7533997G>C GRCh38
NC_000019.9:g.7598883G>C , CM000681.1:g.7598883G>C GRCh37
NC_000019.8:g.7504883G>C NCBI36
NG_013374.1:g.4846G>C
NG_015806.1:g.16388G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*202G>C MANE Select ENSP00000264079.5:n.*202G>C
ENST00000264079.10:c.*202G>C ENSP00000264079.5:n.*202G>C
ENST00000601870.1:c.169+129G>C
NM_020533.2:c.*202G>C NP_065394.1:n.*202G>C
NM_020533.3:c.*202G>C MANE Select NP_065394.1:n.*202G>C
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