Canonical Allele Identifier: CA396214236

Gene: CA7 NAE1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66852770A>G , CM000678.2:g.66852770A>G	GRCh38
NC_000016.9:g.66886673A>G , CM000678.1:g.66886673A>G	GRCh37
NC_000016.8:g.65444174A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338437.7:c.575A>G (CA7) MANE Select	ENSP00000345659.2:p.His192Arg
ENST00000338437.6:c.575A>G (CA7)	ENSP00000345659.2:p.His192Arg
ENST00000394069.3:c.407A>G (CA7)	ENSP00000377632.3:p.His136Arg
ENST00000548332.6:c.*153A>G (CA7)	ENSP00000447178.2:n.*153A>G
ENST00000561579.6:c.-215+20345T>C (NAE1)	ENSP00000464119.1:n.-215+20345T>C
NM_001014435.1:c.407A>G (CA7)	NP_001014435.1:p.His136Arg
NM_005182.2:c.575A>G (CA7)	NP_005173.1:p.His192Arg
XM_005256136.2:c.407A>G (CA7)	XP_005256193.1:p.His136Arg
XM_011523311.1:c.575A>G (CA7)	XP_011521613.1:p.His192Arg
XM_011523312.1:c.407A>G (CA7)	XP_011521614.1:p.His136Arg
NM_001014435.2:c.407A>G (CA7)	NP_001014435.1:p.His136Arg
NM_001365337.1:c.407A>G (CA7)	NP_001352266.1:p.His136Arg
NM_005182.3:c.575A>G (CA7) MANE Select	NP_005173.1:p.His192Arg
NM_001365337.2:c.407A>G (CA7)	NP_001352266.1:p.His136Arg