Canonical Allele Identifier: CA1337709596
Gene: MLPH HGNC NCBI

Linked Data

dbSNP Id: rs2081089380
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237554145C>G , CM000664.2:g.237554145C>G GRCh38
NC_000002.11:g.238462788C>G , CM000664.1:g.238462788C>G GRCh37
NC_000002.10:g.238127527C>G NCBI36
NG_007286.1:g.71859C>G , LRG_83:g.71859C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264605.8:c.*553C>G MANE Select ENSP00000264605.3:n.*553C>G
ENST00000264605.7:c.*553C>G ENSP00000264605.3:n.*553C>G
NM_001042467.2:c.*553C>G NP_001035932.1:n.*553C>G
NM_001281473.1:c.*553C>G NP_001268402.1:n.*553C>G
NM_001281474.1:c.*553C>G NP_001268403.1:n.*553C>G
NM_024101.6:c.*553C>G NP_077006.1:n.*553C>G
NR_104019.1:n.2788C>G
NM_024101.7:c.*553C>G MANE Select NP_077006.1:n.*553C>G
NM_001042467.3:c.*553C>G NP_001035932.1:n.*553C>G
NM_001281473.2:c.*553C>G NP_001268402.1:n.*553C>G
NM_001281474.2:c.*553C>G NP_001268403.1:n.*553C>G
NR_104019.2:n.2756C>G
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