Canonical Allele Identifier: CA358396941

Gene: GYPA

Linked Data

• gnomAD v4: 4-144119686-C-G
• MyVariant Identifiers: chr4:g.145040839C>G (hg19) ; chr4:g.144119686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144119686C>G , CM000666.2:g.144119686C>G	GRCh38
NC_000004.11:g.145040839C>G , CM000666.1:g.145040839C>G	GRCh37
NC_000004.10:g.145260289C>G	NCBI36
NG_007470.3:g.26066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535709.6:c.226G>C	ENSP00000445398.2:p.Gly76Arg
ENST00000641688.3:c.232G>C MANE Select	ENSP00000493142.2:p.Gly78Arg
ENST00000642295.1:c.232G>C	ENSP00000496079.1:p.Gly78Arg
ENST00000642713.1:c.154G>C	ENSP00000494092.1:p.Gly52Arg
ENST00000642738.1:c.133G>C	ENSP00000494322.1:p.Gly45Arg
ENST00000643148.1:c.38-2747G>C	ENSP00000495505.1:n.38-2747G>C
ENST00000643254.1:n.77-4919G>C
ENST00000646447.1:c.154G>C	ENSP00000495922.1:p.Gly52Arg
ENST00000324022.14:c.133G>C	ENSP00000324483.10:p.Gly45Arg
ENST00000360771.8:c.232G>C	ENSP00000354003.4:p.Gly78Arg
ENST00000503627.2:c.136+804G>C	ENSP00000421243.1:n.136+804G>C
ENST00000504786.5:c.136+804G>C	ENSP00000425549.1:n.136+804G>C
ENST00000508337.1:c.*186G>C	ENSP00000425719.1:n.*186G>C
ENST00000509346.5:n.194+804G>C
ENST00000512064.5:c.232G>C	ENSP00000426130.1:p.Glu78Gln
ENST00000512789.5:c.38-934G>C	ENSP00000425193.1:n.38-934G>C
ENST00000514603.1:n.290G>C
ENST00000535709.5:c.226G>C	ENSP00000445398.2:p.Gly76Arg
ENST00000616983.4:c.226G>C	ENSP00000478329.1:p.Gly76Arg
NM_001308187.1:c.232G>C	NP_001295116.1:p.Glu78Gln
NM_001308190.1:c.133G>C	NP_001295119.1:p.Gly45Arg
NM_002099.6:c.232G>C	NP_002090.4:p.Gly78Arg
NM_002099.7:c.232G>C	NP_002090.4:p.Gly78Arg
XM_017008134.2:c.232G>C	XP_016863623.1:p.Gly78Arg
XM_017008135.2:c.154G>C	XP_016863624.1:p.Gly52Arg
XM_017008136.1:c.133G>C	XP_016863625.1:p.Gly45Arg
XR_002959804.1:n.456+4457C>G
NM_002099.8:c.232G>C MANE Select	NP_002090.4:p.Gly78Arg
NM_001308187.2:c.232G>C	NP_001295116.1:p.Glu78Gln
NM_001308190.2:c.133G>C	NP_001295119.1:p.Gly45Arg