Canonical Allele Identifier: CA3092636
Gene: GYPA HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144120554C>A , CM000666.2:g.144120554C>A GRCh38
NC_000004.11:g.145041707C>A , CM000666.1:g.145041707C>A GRCh37
NC_000004.10:g.145261157C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000535709.6:c.66G>T ENSP00000445398.2:p.Glu22Asp
ENST00000641688.3:c.72G>T MANE Select ENSP00000493142.2:p.Glu24Asp
ENST00000642295.1:c.72G>T ENSP00000496079.1:p.Glu24Asp
ENST00000642713.1:c.-7G>T ENSP00000494092.1:n.-7G>T
ENST00000642738.1:c.38-773G>T ENSP00000494322.1:n.38-773G>T
ENST00000643148.1:c.38-3615G>T ENSP00000495505.1:n.38-3615G>T
ENST00000643254.1:n.77-5787G>T
ENST00000646447.1:c.-7G>T ENSP00000495922.1:n.-7G>T
ENST00000324022.14:c.38-773G>T ENSP00000324483.10:n.38-773G>T
ENST00000360771.8:c.72G>T ENSP00000354003.4:p.Glu24Asp
ENST00000503627.2:c.72G>T ENSP00000421243.1:p.Glu24Asp
ENST00000504786.5:c.72G>T ENSP00000425549.1:p.Glu24Asp
ENST00000508337.1:c.*26G>T ENSP00000425719.1:n.*26G>T
ENST00000509346.5:n.130G>T
ENST00000512064.5:c.72G>T ENSP00000426130.1:p.Glu24Asp
ENST00000512789.5:c.38-1802G>T ENSP00000425193.1:n.38-1802G>T
ENST00000514603.1:n.130G>T
ENST00000535709.5:c.66G>T ENSP00000445398.2:p.Glu22Asp
ENST00000616983.4:c.66G>T ENSP00000478329.1:p.Glu22Asp
NM_001308187.1:c.72G>T NP_001295116.1:p.Glu24Asp
NM_001308190.1:c.38-773G>T NP_001295119.1:n.38-773G>T
NM_002099.6:c.72G>T NP_002090.4:p.Glu24Asp
NM_002099.7:c.72G>T NP_002090.4:p.Glu24Asp
XM_017008134.2:c.72G>T XP_016863623.1:p.Glu24Asp
XM_017008135.2:c.-7G>T XP_016863624.1:n.-7G>T
XM_017008136.1:c.38-773G>T XP_016863625.1:n.38-773G>T
XR_002959804.1:n.456+5325C>A
NM_002099.8:c.72G>T MANE Select NP_002090.4:p.Glu24Asp
NM_001308187.2:c.72G>T NP_001295116.1:p.Glu24Asp
NM_001308190.2:c.38-773G>T NP_001295119.1:n.38-773G>T