Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48714340A>C , CM000680.2:g.48714340A>C	GRCh38
NC_000018.9:g.46240711A>C , CM000680.1:g.46240711A>C	GRCh37
NC_000018.8:g.44494709A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256413.8:c.584+2645A>C MANE Select	ENSP00000256413.3:n.584+2645A>C
ENST00000256413.7:c.584+2645A>C	ENSP00000256413.3:n.584+2645A>C
ENST00000382998.8:c.584+2645A>C	ENSP00000372459.3:n.584+2645A>C
ENST00000587769.1:n.236+2645A>C
NM_001142397.1:c.584+2645A>C	NP_001135869.1:n.584+2645A>C
NM_014772.2:c.584+2645A>C	NP_055587.1:n.584+2645A>C
XM_005258392.3:c.632+2645A>C	XP_005258449.1:n.632+2645A>C
XM_006722583.2:c.632+2645A>C	XP_006722646.1:n.632+2645A>C
XM_006722585.2:c.632+2645A>C	XP_006722648.1:n.632+2645A>C
XM_006722586.2:c.632+2645A>C	XP_006722649.1:n.632+2645A>C
XM_006722587.2:c.584+2645A>C	XP_006722650.1:n.584+2645A>C
XM_006722588.2:c.584+2645A>C	XP_006722651.1:n.584+2645A>C
XM_006722589.2:c.584+2645A>C	XP_006722652.1:n.584+2645A>C
XM_011526278.1:c.509+2645A>C	XP_011524580.1:n.509+2645A>C
XM_011526279.1:c.584+2645A>C	XP_011524581.1:n.584+2645A>C
XM_011526280.1:c.632+2645A>C	XP_011524582.1:n.632+2645A>C
XM_005258392.4:c.632+2645A>C	XP_005258449.1:n.632+2645A>C
XM_006722583.3:c.632+2645A>C	XP_006722646.1:n.632+2645A>C
XM_006722586.3:c.632+2645A>C	XP_006722649.1:n.632+2645A>C
XM_006722587.3:c.584+2645A>C	XP_006722650.1:n.584+2645A>C
XM_006722588.4:c.584+2645A>C	XP_006722651.1:n.584+2645A>C
XM_011526278.3:c.509+2645A>C	XP_011524580.1:n.509+2645A>C
XM_011526279.2:c.584+2645A>C	XP_011524581.1:n.584+2645A>C
XM_017026100.1:c.632+2645A>C	XP_016881589.1:n.632+2645A>C
XM_017026101.1:c.632+2645A>C	XP_016881590.1:n.632+2645A>C
XM_017026102.1:c.584+2645A>C	XP_016881591.1:n.584+2645A>C
NM_014772.3:c.584+2645A>C MANE Select	NP_055587.1:n.584+2645A>C
NM_001142397.2:c.584+2645A>C	NP_001135869.1:n.584+2645A>C