Canonical Allele Identifier: CA5458892

Gene: MTPAP

Linked Data

• dbSNP Id: rs765272329
• ExAC: 10:30602524 C / A
• gnomAD v2: 10-30602524-C-A
• gnomAD v3: 10-30313595-C-A
• gnomAD v4: 10-30313595-C-A
• MyVariant Identifiers: chr10:g.30602524C>A (hg19) ; chr10:g.30313595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313595C>A , CM000672.2:g.30313595C>A	GRCh38
NC_000010.10:g.30602524C>A , CM000672.1:g.30602524C>A	GRCh37
NC_000010.9:g.30642530C>A	NCBI36
NG_028096.1:g.40744G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.*14G>T MANE Select	ENSP00000263063.3:n.*14G>T
ENST00000263063.8:c.*14G>T	ENSP00000263063.3:n.*14G>T
ENST00000488290.5:n.3518G>T
NM_018109.3:c.*14G>T	NP_060579.3:n.*14G>T
NM_018109.4:c.*14G>T MANE Select	NP_060579.3:n.*14G>T