Canonical Allele Identifier: CA2581828649

Gene: MLPH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237554139T>A , CM000664.2:g.237554139T>A	GRCh38
NC_000002.11:g.238462782T>A , CM000664.1:g.238462782T>A	GRCh37
NC_000002.10:g.238127521T>A	NCBI36
NG_007286.1:g.71853T>A , LRG_83:g.71853T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264605.8:c.*547T>A MANE Select	ENSP00000264605.3:n.*547T>A
ENST00000264605.7:c.*547T>A	ENSP00000264605.3:n.*547T>A
NM_001042467.2:c.*547T>A	NP_001035932.1:n.*547T>A
NM_001281473.1:c.*547T>A	NP_001268402.1:n.*547T>A
NM_001281474.1:c.*547T>A	NP_001268403.1:n.*547T>A
NM_024101.6:c.*547T>A	NP_077006.1:n.*547T>A
NR_104019.1:n.2782T>A
NM_024101.7:c.*547T>A MANE Select	NP_077006.1:n.*547T>A
NM_001042467.3:c.*547T>A	NP_001035932.1:n.*547T>A
NM_001281473.2:c.*547T>A	NP_001268402.1:n.*547T>A
NM_001281474.2:c.*547T>A	NP_001268403.1:n.*547T>A
NR_104019.2:n.2750T>A