Canonical Allele Identifier: CA2663808710

Gene: MLPH

Linked Data

• gnomAD v4: 2-237554140-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237554140C>A , CM000664.2:g.237554140C>A	GRCh38
NC_000002.11:g.238462783C>A , CM000664.1:g.238462783C>A	GRCh37
NC_000002.10:g.238127522C>A	NCBI36
NG_007286.1:g.71854C>A , LRG_83:g.71854C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264605.8:c.*548C>A MANE Select	ENSP00000264605.3:n.*548C>A
ENST00000264605.7:c.*548C>A	ENSP00000264605.3:n.*548C>A
NM_001042467.2:c.*548C>A	NP_001035932.1:n.*548C>A
NM_001281473.1:c.*548C>A	NP_001268402.1:n.*548C>A
NM_001281474.1:c.*548C>A	NP_001268403.1:n.*548C>A
NM_024101.6:c.*548C>A	NP_077006.1:n.*548C>A
NR_104019.1:n.2783C>A
NM_024101.7:c.*548C>A MANE Select	NP_077006.1:n.*548C>A
NM_001042467.3:c.*548C>A	NP_001035932.1:n.*548C>A
NM_001281473.2:c.*548C>A	NP_001268402.1:n.*548C>A
NM_001281474.2:c.*548C>A	NP_001268403.1:n.*548C>A
NR_104019.2:n.2751C>A