Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151805009G>A , CM000667.2:g.151805009G>A	GRCh38
NC_000005.9:g.151184570G>A , CM000667.1:g.151184570G>A	GRCh37
NC_000005.8:g.151164763G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356245.8:c.*918G>A MANE Select	ENSP00000348578.3:n.*918G>A
ENST00000520177.6:c.*1105G>A	ENSP00000427810.2:n.*1105G>A
ENST00000676634.1:n.690G>A
ENST00000676644.1:c.*2296G>A	ENSP00000504249.1:n.*2296G>A
ENST00000676715.1:c.826G>A
ENST00000676734.1:c.562+563G>A	ENSP00000504327.1:n.562+563G>A
ENST00000676878.1:c.562+563G>A	ENSP00000504118.1:n.562+563G>A
ENST00000676899.1:c.714G>A
ENST00000676911.1:n.688G>A
ENST00000676978.1:c.*675G>A	ENSP00000503939.1:n.*675G>A
ENST00000677323.1:c.*918G>A	ENSP00000502880.1:n.*918G>A
ENST00000677381.1:c.*1859G>A	ENSP00000504403.1:n.*1859G>A
ENST00000677493.1:c.*1394G>A	ENSP00000504786.1:n.*1394G>A
ENST00000677687.1:c.133-482G>A	ENSP00000504281.1:n.133-482G>A
ENST00000677757.1:n.4169G>A
ENST00000677923.1:c.*1357G>A	ENSP00000504573.1:n.*1357G>A
ENST00000678295.1:c.923G>A	ENSP00000503775.1:n.923G>A
ENST00000678646.1:c.*918G>A	ENSP00000504525.1:n.*918G>A
ENST00000678657.1:c.847G>A	ENSP00000504393.1:n.847G>A
ENST00000678854.1:c.*370G>A	ENSP00000503080.1:n.*370G>A
ENST00000678904.1:n.2698G>A
ENST00000678910.1:c.*654G>A	ENSP00000503654.1:n.*654G>A
ENST00000678925.1:c.*654G>A	ENSP00000503699.1:n.*654G>A
ENST00000678964.1:c.*1385G>A	ENSP00000503385.1:n.*1385G>A
ENST00000679289.1:c.*1923G>A	ENSP00000504039.1:n.*1923G>A
ENST00000356245.7:c.*918G>A	ENSP00000348578.3:n.*918G>A
ENST00000394123.7:c.*918G>A	ENSP00000377681.3:n.*918G>A
ENST00000520177.5:c.*1859G>A	ENSP00000427810.1:n.*1859G>A
NM_005754.2:c.*918G>A	NP_005745.1:n.*918G>A
NM_198395.1:c.*918G>A	NP_938405.1:n.*918G>A
XM_006714749.2:c.*918G>A	XP_006714812.1:n.*918G>A
XM_006714750.2:c.*918G>A	XP_006714813.1:n.*918G>A
NM_005754.3:c.*918G>A MANE Select	NP_005745.1:n.*918G>A
NM_198395.2:c.*918G>A	NP_938405.1:n.*918G>A

Linked Data

Genomic Alleles

Transcript Alleles