Canonical Allele Identifier: CA2663808720
Gene: MLPH HGNC NCBI

Linked Data

gnomAD v4: 2-237554148-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237554148T>A , CM000664.2:g.237554148T>A GRCh38
NC_000002.11:g.238462791T>A , CM000664.1:g.238462791T>A GRCh37
NC_000002.10:g.238127530T>A NCBI36
NG_007286.1:g.71862T>A , LRG_83:g.71862T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264605.8:c.*556T>A MANE Select ENSP00000264605.3:n.*556T>A
ENST00000264605.7:c.*556T>A ENSP00000264605.3:n.*556T>A
NM_001042467.2:c.*556T>A NP_001035932.1:n.*556T>A
NM_001281473.1:c.*556T>A NP_001268402.1:n.*556T>A
NM_001281474.1:c.*556T>A NP_001268403.1:n.*556T>A
NM_024101.6:c.*556T>A NP_077006.1:n.*556T>A
NR_104019.1:n.2791T>A
NM_024101.7:c.*556T>A MANE Select NP_077006.1:n.*556T>A
NM_001042467.3:c.*556T>A NP_001035932.1:n.*556T>A
NM_001281473.2:c.*556T>A NP_001268402.1:n.*556T>A
NM_001281474.2:c.*556T>A NP_001268403.1:n.*556T>A
NR_104019.2:n.2759T>A
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