Canonical Allele Identifier: CA67870920

Gene: MLPH

Linked Data

• dbSNP Id: rs888964353
• gnomAD v3: 2-237554148-T-C
• gnomAD v4: 2-237554148-T-C
• MyVariant Identifiers: chr2:g.238462791T>C (hg19) ; chr2:g.237554148T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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