Canonical Allele Identifier: CA663649959
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1335961579
gnomAD v3: 10-30313441-G-C
gnomAD v4: 10-30313441-G-C
MyVariant Identifiers: chr10:g.30602370G>C (hg19) chr10:g.30313441G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313441G>C , CM000672.2:g.30313441G>C GRCh38
NC_000010.10:g.30602370G>C , CM000672.1:g.30602370G>C GRCh37
NC_000010.9:g.30642376G>C NCBI36
NG_028096.1:g.40898C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*168C>G MANE Select ENSP00000263063.3:n.*168C>G
ENST00000263063.8:c.*168C>G ENSP00000263063.3:n.*168C>G
ENST00000488290.5:n.3672C>G
NM_018109.3:c.*168C>G NP_060579.3:n.*168C>G
NM_018109.4:c.*168C>G MANE Select NP_060579.3:n.*168C>G
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