Canonical Allele Identifier: CA82552385

Gene: GP9

Linked Data

• dbSNP Id: rs200640594
• gnomAD v4: 3-129061975-C-G
• MyVariant Identifiers: chr3:g.128780818C>G (hg19) ; chr3:g.129061975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129061975C>G , CM000665.2:g.129061975C>G	GRCh38
NC_000003.11:g.128780818C>G , CM000665.1:g.128780818C>G	GRCh37
NC_000003.10:g.130263508C>G	NCBI36
NG_008715.1:g.6174C>G , LRG_477:g.6174C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.236C>G MANE Select	ENSP00000303942.4:p.Thr79Ser
ENST00000307395.4:c.236C>G	ENSP00000303942.4:p.Thr79Ser
NM_000174.4:c.236C>G , LRG_477t1:c.236C>G	NP_000165.1:p.Thr79Ser
XM_005247374.3:c.236C>G	XP_005247431.1:p.Thr79Ser
XM_011512701.1:c.236C>G	XP_011511003.1:p.Thr79Ser
XM_011512702.1:c.236C>G	XP_011511004.1:p.Thr79Ser
NM_000174.5:c.236C>G MANE Select	NP_000165.1:p.Thr79Ser