Canonical Allele Identifier: CA376433786

Gene: MTPAP

Linked Data

• MyVariant Identifiers: chr10:g.30602566C>G (hg19) ; chr10:g.30313637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313637C>G , CM000672.2:g.30313637C>G	GRCh38
NC_000010.10:g.30602566C>G , CM000672.1:g.30602566C>G	GRCh37
NC_000010.9:g.30642572C>G	NCBI36
NG_028096.1:g.40702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1721G>C MANE Select	ENSP00000263063.3:p.Gly574Ala
ENST00000263063.8:c.1721G>C	ENSP00000263063.3:p.Gly574Ala
ENST00000488290.5:n.3476G>C
NM_018109.3:c.1721G>C	NP_060579.3:p.Gly574Ala
NM_018109.4:c.1721G>C MANE Select	NP_060579.3:p.Gly574Ala