Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224930G>A , CM000679.2:g.7224930G>A	GRCh38
NC_000017.10:g.7128249G>A , CM000679.1:g.7128249G>A	GRCh37
NC_000017.9:g.7068973G>A	NCBI36
NG_007975.1:g.10097G>A
NG_008391.2:g.121C>T
NG_033038.1:g.14615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1828-27G>A MANE Select	ENSP00000349297.5:n.1828-27G>A
ENST00000322910.9:c.*1783-27G>A	ENSP00000325395.5:n.*1783-27G>A
ENST00000350303.9:c.1762-27G>A	ENSP00000344152.5:n.1762-27G>A
ENST00000356839.9:c.1828-27G>A	ENSP00000349297.5:n.1828-27G>A
ENST00000542255.6:c.707-27G>A
ENST00000543245.6:c.1897-27G>A	ENSP00000438689.2:n.1897-27G>A
ENST00000578033.1:n.253-27G>A
ENST00000578319.5:n.409-27G>A
ENST00000578711.1:n.1426G>A
ENST00000578809.5:n.400-27G>A
ENST00000579425.5:n.944-27G>A
ENST00000579546.1:c.563-27G>A
ENST00000583848.5:c.194-27G>A	ENSP00000466487.1:n.194-27G>A
ENST00000583850.5:n.599-27G>A
ENST00000583858.5:c.759-27G>A
NM_000018.3:c.1828-27G>A	NP_000009.1:n.1828-27G>A
NM_001033859.2:c.1762-27G>A	NP_001029031.1:n.1762-27G>A
NM_001270447.1:c.1897-27G>A	NP_001257376.1:n.1897-27G>A
NM_001270448.1:c.1600-27G>A	NP_001257377.1:n.1600-27G>A
XM_006721516.2:c.1849-27G>A	XP_006721579.2:n.1849-27G>A
XM_011523829.1:c.1747-27G>A	XP_011522131.1:n.1747-27G>A
XM_011523830.1:c.1726-27G>A	XP_011522132.1:n.1726-27G>A
XR_934021.1:n.1931-27G>A
XR_934022.1:n.1837-27G>A
XR_934023.1:n.1858-27G>A
XM_006721516.3:c.1849-27G>A	XP_006721579.2:n.1849-27G>A
XM_011523829.2:c.1747-27G>A	XP_011522131.1:n.1747-27G>A
XM_011523830.2:c.1726-27G>A	XP_011522132.1:n.1726-27G>A
XM_024450741.1:c.1816-27G>A	XP_024306509.1:n.1816-27G>A
XR_934021.2:n.1883-27G>A
XR_934022.2:n.1789-27G>A
XR_934023.2:n.1810-27G>A
NM_000018.4:c.1828-27G>A MANE Select	NP_000009.1:n.1828-27G>A
NM_001033859.3:c.1762-27G>A	NP_001029031.1:n.1762-27G>A
NM_001270447.2:c.1897-27G>A	NP_001257376.1:n.1897-27G>A
NM_001270448.2:c.1600-27G>A	NP_001257377.1:n.1600-27G>A

Linked Data

Genomic Alleles

Transcript Alleles