Canonical Allele Identifier: CA592449209
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1251168965
gnomAD v2: 10-30602522-C-G
gnomAD v3: 10-30313593-C-G
gnomAD v4: 10-30313593-C-G
MyVariant Identifiers: chr10:g.30602522C>G (hg19) chr10:g.30313593C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313593C>G , CM000672.2:g.30313593C>G GRCh38
NC_000010.10:g.30602522C>G , CM000672.1:g.30602522C>G GRCh37
NC_000010.9:g.30642528C>G NCBI36
NG_028096.1:g.40746G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*16G>C MANE Select ENSP00000263063.3:n.*16G>C
ENST00000263063.8:c.*16G>C ENSP00000263063.3:n.*16G>C
ENST00000488290.5:n.3520G>C
NM_018109.3:c.*16G>C NP_060579.3:n.*16G>C
NM_018109.4:c.*16G>C MANE Select NP_060579.3:n.*16G>C
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