Canonical Allele Identifier: CA3068958

Gene: ADAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122429735T>A , CM000666.2:g.122429735T>A	GRCh38
NC_000004.11:g.123350890T>A , CM000666.1:g.123350890T>A	GRCh37
NC_000004.10:g.123570340T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_139243.4:c.1727T>A MANE Select	NP_640336.1:p.Met576Lys
ENST00000296513.7:c.1727T>A MANE Select	ENSP00000296513.2:p.Met576Lys
NM_001159285.1:c.1694T>A	NP_001152757.1:p.Met565Lys
NM_001159285.2:c.1694T>A	NP_001152757.1:p.Met565Lys
NM_001159295.1:c.1673T>A	NP_001152767.1:p.Met558Lys
NM_001159295.2:c.1673T>A	NP_001152767.1:p.Met558Lys
NM_139243.3:c.1727T>A	NP_640336.1:p.Met576Lys
ENST00000296513.6:c.1727T>A	ENSP00000296513.2:p.Met576Lys
ENST00000388724.6:c.1694T>A	ENSP00000373376.2:p.Met565Lys
ENST00000388725.2:c.1673T>A	ENSP00000373377.2:p.Met558Lys
XM_005262741.2:c.1727T>A	XP_005262798.1:p.Met576Lys
XM_005262743.2:c.1727T>A	XP_005262800.1:p.Met576Lys
XM_005262743.3:c.1727T>A	XP_005262800.1:p.Met576Lys
XM_005262744.2:c.1694T>A	XP_005262801.1:p.Met565Lys
XM_005262744.3:c.1694T>A	XP_005262801.1:p.Met565Lys
XM_005262745.2:c.1658T>A	XP_005262802.1:p.Met553Lys
XM_005262745.3:c.1658T>A	XP_005262802.1:p.Met553Lys
XM_011531603.1:c.1727T>A	XP_011529905.1:p.Met576Lys
XM_011531603.2:c.1727T>A	XP_011529905.1:p.Met576Lys
XM_024453888.1:c.1727T>A	XP_024309656.1:p.Met576Lys
XM_024453889.1:c.1694T>A	XP_024309657.1:p.Met565Lys
XM_024453890.1:c.1694T>A	XP_024309658.1:p.Met565Lys