Canonical Allele Identifier: CA141008581

Gene: TMEM30A

Linked Data

• dbSNP Id: rs1046553575
• MyVariant Identifiers: chr6:g.75966006G>A (hg19) ; chr6:g.75256290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75256290G>A , CM000668.2:g.75256290G>A	GRCh38
NC_000006.11:g.75966006G>A , CM000668.1:g.75966006G>A	GRCh37
NC_000006.10:g.76022726G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230461.11:c.898C>T MANE Select	ENSP00000230461.6:p.Pro300Ser
ENST00000673730.1:c.682C>T	ENSP00000501250.1:p.Pro228Ser
ENST00000673989.1:c.*656C>T	ENSP00000501172.1:n.*656C>T
ENST00000674038.1:c.790C>T	ENSP00000501237.1:p.Pro264Ser
ENST00000674104.1:c.*528C>T	ENSP00000501133.1:n.*528C>T
ENST00000674151.1:c.541C>T	ENSP00000500998.1:p.Pro181Ser
ENST00000230461.10:c.898C>T	ENSP00000230461.6:p.Pro300Ser
ENST00000370050.9:c.541C>T	ENSP00000359067.5:p.Pro181Ser
ENST00000475111.6:c.790C>T	ENSP00000431007.1:p.Pro264Ser
NM_001143958.1:c.790C>T	NP_001137430.1:p.Pro264Ser
NM_018247.3:c.898C>T	NP_060717.1:p.Pro300Ser
NM_018247.4:c.898C>T MANE Select	NP_060717.1:p.Pro300Ser
NM_001143958.2:c.790C>T	NP_001137430.1:p.Pro264Ser