Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2097245G>A , CM000678.2:g.2097245G>A	GRCh38
NC_000016.9:g.2147246G>A , CM000678.1:g.2147246G>A	GRCh37
NC_000016.8:g.2087247G>A	NCBI36
NG_008617.1:g.45976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10406-4C>T MANE Select	ENSP00000262304.4:n.10406-4C>T
ENST00000262304.8:c.10406-4C>T	ENSP00000262304.4:n.10406-4C>T
ENST00000423118.5:c.10403-4C>T	ENSP00000399501.1:n.10403-4C>T
ENST00000487932.5:c.4968-4C>T	ENSP00000457132.1:n.4968-4C>T
NM_000296.3:c.10403-4C>T	NP_000287.3:n.10403-4C>T
NM_001009944.2:c.10406-4C>T	NP_001009944.2:n.10406-4C>T
XM_005255370.2:c.7361-4C>T	XP_005255427.1:n.7361-4C>T
XM_011522525.1:c.10484-4C>T	XP_011520827.1:n.10484-4C>T
XM_011522526.1:c.10481-4C>T	XP_011520828.1:n.10481-4C>T
XM_011522527.1:c.10466-4C>T	XP_011520829.1:n.10466-4C>T
XM_011522528.1:c.10460-4C>T	XP_011520830.1:n.10460-4C>T
XM_011522529.1:c.10457-4C>T	XP_011520831.1:n.10457-4C>T
XM_011522530.1:c.10430-4C>T	XP_011520832.1:n.10430-4C>T
XM_011522531.1:c.10412-4C>T	XP_011520833.1:n.10412-4C>T
XM_011522532.1:c.10358-4C>T	XP_011520834.1:n.10358-4C>T
XM_011522533.1:c.10277-4C>T	XP_011520835.1:n.10277-4C>T
XM_011522534.1:c.10220-4C>T	XP_011520836.1:n.10220-4C>T
XM_011522535.1:c.8306-4C>T	XP_011520837.1:n.8306-4C>T
XM_011522537.1:c.7484-4C>T	XP_011520839.1:n.7484-4C>T
XR_932867.1:n.10499-4C>T
XR_932868.1:n.10499-4C>T
XR_932869.1:n.10499-4C>T
XR_932870.1:n.10499-4C>T
XM_005255370.3:c.7361-4C>T	XP_005255427.1:n.7361-4C>T
XM_011522528.3:c.10460-4C>T	XP_011520830.1:n.10460-4C>T
XM_011522529.2:c.10457-4C>T	XP_011520831.1:n.10457-4C>T
XM_011522537.2:c.7484-4C>T	XP_011520839.1:n.7484-4C>T
XM_024450298.1:c.10526-4C>T	XP_024306066.1:n.10526-4C>T
XM_024450299.1:c.10454-4C>T	XP_024306067.1:n.10454-4C>T
XM_024450300.1:c.10316-4C>T	XP_024306068.1:n.10316-4C>T
XM_024450301.1:c.8402-4C>T	XP_024306069.1:n.8402-4C>T
NM_000296.4:c.10403-4C>T	NP_000287.4:n.10403-4C>T
NM_001009944.3:c.10406-4C>T MANE Select	NP_001009944.3:n.10406-4C>T