Canonical Allele Identifier: CA376433717

Gene: MTPAP

Linked Data

• MyVariant Identifiers: chr10:g.30602549T>A (hg19) ; chr10:g.30313620T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313620T>A , CM000672.2:g.30313620T>A	GRCh38
NC_000010.10:g.30602549T>A , CM000672.1:g.30602549T>A	GRCh37
NC_000010.9:g.30642555T>A	NCBI36
NG_028096.1:g.40719A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1738A>T MANE Select	ENSP00000263063.3:p.Thr580Ser
ENST00000263063.8:c.1738A>T	ENSP00000263063.3:p.Thr580Ser
ENST00000488290.5:n.3493A>T
NM_018109.3:c.1738A>T	NP_060579.3:p.Thr580Ser
NM_018109.4:c.1738A>T MANE Select	NP_060579.3:p.Thr580Ser