Canonical Allele Identifier: CA205300620
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs561134023
gnomAD v3: 10-30313382-G-A
gnomAD v4: 10-30313382-G-A
MyVariant Identifiers: chr10:g.30602311G>A (hg19) chr10:g.30313382G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313382G>A , CM000672.2:g.30313382G>A GRCh38
NC_000010.10:g.30602311G>A , CM000672.1:g.30602311G>A GRCh37
NC_000010.9:g.30642317G>A NCBI36
NG_028096.1:g.40957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*227C>T MANE Select ENSP00000263063.3:n.*227C>T
ENST00000263063.8:c.*227C>T ENSP00000263063.3:n.*227C>T
ENST00000488290.5:n.3731C>T
NM_018109.3:c.*227C>T NP_060579.3:n.*227C>T
NM_018109.4:c.*227C>T MANE Select NP_060579.3:n.*227C>T
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Search 100 bp 3'