Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158150436C>T , CM000668.2:g.158150436C>T	GRCh38
NC_000006.11:g.158571468C>T , CM000668.1:g.158571468C>T	GRCh37
NC_000006.10:g.158491456C>T	NCBI36
NG_032889.1:g.22845G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000607071.6:c.*99+17G>A	ENSP00000475855.1:n.*99+17G>A
ENST00000642244.1:c.265+17G>A	ENSP00000493554.1:n.265+17G>A
ENST00000642903.1:c.265+17G>A	ENSP00000493559.1:n.265+17G>A
ENST00000643093.1:n.315+17G>A
ENST00000644972.1:c.265+17G>A	ENSP00000496451.1:n.265+17G>A
ENST00000645077.1:c.*99+17G>A	ENSP00000496113.1:n.*99+17G>A
ENST00000645172.1:c.*99+17G>A	ENSP00000495367.1:n.*99+17G>A
ENST00000646190.1:n.1496+17G>A
ENST00000646208.1:c.92-3523G>A	ENSP00000493723.1:n.92-3523G>A
ENST00000646410.1:c.226+17G>A	ENSP00000494205.1:n.226+17G>A
ENST00000646562.1:c.*99+17G>A	ENSP00000496087.1:n.*99+17G>A
ENST00000647468.2:c.265+17G>A MANE Select	ENSP00000496731.1:n.265+17G>A
ENST00000648111.1:c.239+17G>A	ENSP00000497275.1:n.239+17G>A
ENST00000367101.5:c.265+17G>A	ENSP00000356068.1:n.265+17G>A
ENST00000367104.7:c.265+17G>A	ENSP00000356071.3:n.265+17G>A
ENST00000606965.5:c.265+17G>A	ENSP00000475808.1:n.265+17G>A
ENST00000607000.1:c.265+17G>A	ENSP00000475788.1:n.265+17G>A
ENST00000607071.5:c.*99+17G>A	ENSP00000475855.1:n.*99+17G>A
ENST00000607742.5:c.*99+17G>A	ENSP00000475523.1:n.*99+17G>A
NM_032861.3:c.265+17G>A	NP_116250.3:n.265+17G>A
NR_073096.1:n.407+17G>A
XM_006715586.1:c.55+17G>A	XP_006715649.1:n.55+17G>A
XM_011536196.1:c.244+17G>A	XP_011534498.1:n.244+17G>A
XM_011536197.1:c.265+17G>A	XP_011534499.1:n.265+17G>A
XM_011536198.1:c.55+17G>A	XP_011534500.1:n.55+17G>A
XR_942606.1:n.266+17G>A
XM_006715586.3:c.55+17G>A	XP_006715649.1:n.55+17G>A
XM_011536196.3:c.244+17G>A	XP_011534498.1:n.244+17G>A
XM_011536198.3:c.55+17G>A	XP_011534500.1:n.55+17G>A
XM_024446573.1:c.265+17G>A	XP_024302341.1:n.265+17G>A
XR_001743697.2:n.346+17G>A
XR_942606.2:n.397+17G>A
NM_032861.4:c.265+17G>A MANE Select	NP_116250.3:n.265+17G>A
NR_073096.2:n.389+17G>A