Canonical Allele Identifier: CA663649937
Gene: MTPAP HGNC NCBI

Linked Data

dbSNP Id: rs1482193770
gnomAD v4: 10-30313415-C-A
MyVariant Identifiers: chr10:g.30602344C>A (hg19) chr10:g.30313415C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313415C>A , CM000672.2:g.30313415C>A GRCh38
NC_000010.10:g.30602344C>A , CM000672.1:g.30602344C>A GRCh37
NC_000010.9:g.30642350C>A NCBI36
NG_028096.1:g.40924G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263063.9:c.*194G>T MANE Select ENSP00000263063.3:n.*194G>T
ENST00000263063.8:c.*194G>T ENSP00000263063.3:n.*194G>T
ENST00000488290.5:n.3698G>T
NM_018109.3:c.*194G>T NP_060579.3:n.*194G>T
NM_018109.4:c.*194G>T MANE Select NP_060579.3:n.*194G>T
Search 100 bp 5'
Search 100 bp 3'