Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.110627264A>T , CM000668.2:g.110627264A>T	GRCh38
NC_000006.11:g.110948467A>T , CM000668.1:g.110948467A>T	GRCh37
NC_000006.10:g.111055160A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368911.8:c.647-119T>A MANE Select	ENSP00000357907.3:n.647-119T>A
ENST00000323817.7:c.467-119T>A	ENSP00000317665.3:n.467-119T>A
ENST00000368911.7:c.647-119T>A	ENSP00000357907.3:n.647-119T>A
ENST00000413605.6:c.335-119T>A	ENSP00000410604.3:n.335-119T>A
ENST00000457688.5:c.467-119T>A	ENSP00000415621.1:n.467-119T>A
ENST00000463016.1:c.461-119T>A
NM_001300960.1:c.515-119T>A	NP_001287889.1:n.515-119T>A
NM_001300963.1:c.467-119T>A	NP_001287892.1:n.467-119T>A
NM_001300964.1:c.467-119T>A	NP_001287893.1:n.467-119T>A
NM_015076.4:c.647-119T>A	NP_055891.1:n.647-119T>A
XM_005266871.2:c.275-119T>A	XP_005266928.1:n.275-119T>A
XM_005266872.2:c.128-119T>A	XP_005266929.1:n.128-119T>A
XM_011535630.1:c.806-119T>A	XP_011533932.1:n.806-119T>A
XM_011535631.1:c.686-119T>A	XP_011533933.1:n.686-119T>A
XM_011535632.1:c.467-119T>A	XP_011533934.1:n.467-119T>A
XM_005266871.3:c.275-119T>A	XP_005266928.1:n.275-119T>A
XM_011535630.2:c.806-119T>A	XP_011533932.1:n.806-119T>A
XM_011535631.2:c.686-119T>A	XP_011533933.1:n.686-119T>A
XM_011535632.2:c.938-119T>A	XP_011533934.2:n.938-119T>A
XM_017010587.2:c.467-119T>A	XP_016866076.1:n.467-119T>A
XM_017010588.1:c.128-119T>A	XP_016866077.1:n.128-119T>A
XM_024446376.1:c.938-119T>A	XP_024302144.1:n.938-119T>A
XM_024446377.1:c.467-119T>A	XP_024302145.1:n.467-119T>A
XM_024446378.1:c.467-119T>A	XP_024302146.1:n.467-119T>A
XM_024446379.1:c.467-119T>A	XP_024302147.1:n.467-119T>A
XM_024446380.1:c.467-119T>A	XP_024302148.1:n.467-119T>A
XM_024446381.1:c.467-119T>A	XP_024302149.1:n.467-119T>A
NM_015076.5:c.647-119T>A MANE Select	NP_055891.1:n.647-119T>A
NM_001300960.2:c.515-119T>A	NP_001287889.1:n.515-119T>A
NM_001300964.2:c.467-119T>A	NP_001287893.1:n.467-119T>A
NM_001300963.2:c.467-119T>A	NP_001287892.1:n.467-119T>A