Canonical Allele Identifier: CA2663808725
Gene: MLPH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237554153G>A , CM000664.2:g.237554153G>A GRCh38
NC_000002.11:g.238462796G>A , CM000664.1:g.238462796G>A GRCh37
NC_000002.10:g.238127535G>A NCBI36
NG_007286.1:g.71867G>A , LRG_83:g.71867G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264605.8:c.*561G>A MANE Select ENSP00000264605.3:n.*561G>A
ENST00000264605.7:c.*561G>A ENSP00000264605.3:n.*561G>A
NM_001042467.2:c.*561G>A NP_001035932.1:n.*561G>A
NM_001281473.1:c.*561G>A NP_001268402.1:n.*561G>A
NM_001281474.1:c.*561G>A NP_001268403.1:n.*561G>A
NM_024101.6:c.*561G>A NP_077006.1:n.*561G>A
NR_104019.1:n.2796G>A
NM_024101.7:c.*561G>A MANE Select NP_077006.1:n.*561G>A
NM_001042467.3:c.*561G>A NP_001035932.1:n.*561G>A
NM_001281473.2:c.*561G>A NP_001268402.1:n.*561G>A
NM_001281474.2:c.*561G>A NP_001268403.1:n.*561G>A
NR_104019.2:n.2764G>A