Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74890079C>A , CM000677.2:g.74890079C>A	GRCh38
NC_000015.9:g.75182420C>A , CM000677.1:g.75182420C>A	GRCh37
NC_000015.8:g.72969473C>A	NCBI36
NG_008921.1:g.5011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.6C>A MANE Select	ENSP00000318318.6:p.Ala2=
ENST00000323744.10:c.6C>A	ENSP00000318192.6:p.Ala2=
ENST00000352410.8:c.6C>A	ENSP00000318318.6:p.Ala2=
ENST00000535694.5:c.-17C>A	ENSP00000440447.1:n.-17C>A
ENST00000561470.5:c.6C>A	ENSP00000454267.1:p.Ala2=
ENST00000562606.5:c.-29C>A	ENSP00000457020.1:n.-29C>A
ENST00000562800.5:c.6C>A	ENSP00000457619.1:p.Ala2=
ENST00000563422.5:c.6C>A	ENSP00000457885.1:p.Ala2=
ENST00000563786.5:c.-144C>A	ENSP00000455241.1:n.-144C>A
ENST00000564003.5:c.-17C>A	ENSP00000454312.1:n.-17C>A
ENST00000564633.5:c.-26C>A	ENSP00000455383.1:n.-26C>A
ENST00000565576.5:c.6C>A	ENSP00000454619.1:p.Ala2=
ENST00000566377.5:c.6C>A	ENSP00000455405.1:p.Ala2=
ENST00000567116.5:n.37C>A
ENST00000567132.5:c.6C>A	ENSP00000455972.1:p.Ala2=
ENST00000567570.5:c.-492C>A	ENSP00000455477.1:n.-492C>A
ENST00000568303.1:n.34C>A
ENST00000568828.5:c.6C>A	ENSP00000455065.1:p.Ala2=
ENST00000568840.1:n.3C>A
ENST00000568907.5:c.6C>A	ENSP00000457494.1:p.Ala2=
ENST00000569233.5:c.6C>A	ENSP00000454622.1:p.Ala2=
ENST00000569931.5:c.-29C>A	ENSP00000455161.1:n.-29C>A
NM_001289155.1:c.6C>A	NP_001276084.1:p.Ala2=
NM_001289156.1:c.-17C>A	NP_001276085.1:n.-17C>A
NM_001289157.1:c.6C>A	NP_001276086.1:p.Ala2=
NM_002435.2:c.6C>A	NP_002426.1:p.Ala2=
XM_011521592.1:c.-119C>A	XP_011519894.1:n.-119C>A
XM_011521593.1:c.-144C>A	XP_011519895.1:n.-144C>A
NM_001330372.1:c.-144C>A	NP_001317301.1:n.-144C>A
XM_017022208.1:c.-144C>A	XP_016877697.1:n.-144C>A
XM_017022209.2:c.-17C>A	XP_016877698.1:n.-17C>A
NM_002435.3:c.6C>A MANE Select	NP_002426.1:p.Ala2=
NM_001289155.2:c.6C>A	NP_001276084.1:p.Ala2=
NM_001289156.2:c.-17C>A	NP_001276085.1:n.-17C>A
NM_001289157.2:c.6C>A	NP_001276086.1:p.Ala2=
NM_001330372.2:c.-144C>A	NP_001317301.1:n.-144C>A