Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1803583G>T , CM000681.2:g.1803583G>T	GRCh38
NC_000019.9:g.1803582G>T , CM000681.1:g.1803582G>T	GRCh37
NC_000019.8:g.1754582G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310127.10:c.905-938C>A MANE Select	ENSP00000311336.6:n.905-938C>A
ENST00000525591.5:c.746-938C>A	ENSP00000437115.1:n.746-938C>A
ENST00000526092.6:c.746-938C>A	ENSP00000445204.1:n.746-938C>A
ENST00000531925.5:c.*871-938C>A	ENSP00000444334.1:n.*871-938C>A
ENST00000533107.3:n.357-938C>A
NM_001178002.2:c.746-938C>A	NP_001171473.1:n.746-938C>A
NM_138813.3:c.905-938C>A	NP_620168.1:n.905-938C>A
NR_047593.2:n.1371-938C>A
XM_006722654.2:c.905-938C>A	XP_006722717.1:n.905-938C>A
XM_006722655.2:c.905-938C>A	XP_006722718.1:n.905-938C>A
XM_006722656.2:c.647-938C>A	XP_006722719.1:n.647-938C>A
XM_006722657.2:c.905-938C>A	XP_006722720.1:n.905-938C>A
XM_011527707.1:c.905-938C>A	XP_011526009.1:n.905-938C>A
XM_011527708.1:c.905-938C>A	XP_011526010.1:n.905-938C>A
XM_011527709.1:c.905-938C>A	XP_011526011.1:n.905-938C>A
XM_011527710.1:c.149-938C>A	XP_011526012.1:n.149-938C>A
XM_011527711.1:c.905-938C>A	XP_011526013.1:n.905-938C>A
XR_936159.1:n.1144-938C>A
XM_006722654.3:c.905-938C>A	XP_006722717.1:n.905-938C>A
XM_006722655.3:c.905-938C>A	XP_006722718.1:n.905-938C>A
XM_006722656.3:c.647-938C>A	XP_006722719.1:n.647-938C>A
XM_011527707.2:c.905-938C>A	XP_011526009.1:n.905-938C>A
XM_011527708.2:c.905-938C>A	XP_011526010.1:n.905-938C>A
XM_011527709.2:c.905-938C>A	XP_011526011.1:n.905-938C>A
XM_011527710.3:c.149-938C>A	XP_011526012.1:n.149-938C>A
XM_011527711.2:c.905-938C>A	XP_011526013.1:n.905-938C>A
NM_001178002.3:c.746-938C>A	NP_001171473.1:n.746-938C>A
NM_138813.4:c.905-938C>A MANE Select	NP_620168.1:n.905-938C>A
NR_047593.3:n.1371-938C>A