Canonical Allele Identifier: CA67870944

Gene: MLPH

Linked Data

• dbSNP Id: rs747324137
• gnomAD v2: 2-238462801-C-T
• gnomAD v3: 2-237554158-C-T
• gnomAD v4: 2-237554158-C-T
• MyVariant Identifiers: chr2:g.238462801C>T (hg19) ; chr2:g.237554158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237554158C>T , CM000664.2:g.237554158C>T	GRCh38
NC_000002.11:g.238462801C>T , CM000664.1:g.238462801C>T	GRCh37
NC_000002.10:g.238127540C>T	NCBI36
NG_007286.1:g.71872C>T , LRG_83:g.71872C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264605.8:c.*566C>T MANE Select	ENSP00000264605.3:n.*566C>T
ENST00000264605.7:c.*566C>T	ENSP00000264605.3:n.*566C>T
NM_001042467.2:c.*566C>T	NP_001035932.1:n.*566C>T
NM_001281473.1:c.*566C>T	NP_001268402.1:n.*566C>T
NM_001281474.1:c.*566C>T	NP_001268403.1:n.*566C>T
NM_024101.6:c.*566C>T	NP_077006.1:n.*566C>T
NR_104019.1:n.2801C>T
NM_024101.7:c.*566C>T MANE Select	NP_077006.1:n.*566C>T
NM_001042467.3:c.*566C>T	NP_001035932.1:n.*566C>T
NM_001281473.2:c.*566C>T	NP_001268402.1:n.*566C>T
NM_001281474.2:c.*566C>T	NP_001268403.1:n.*566C>T
NR_104019.2:n.2769C>T