Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151017872T>A , CM000663.2:g.151017872T>A	GRCh38
NC_000001.10:g.150990348T>A , CM000663.1:g.150990348T>A	GRCh37
NC_000001.9:g.149256972T>A	NCBI36
NG_052875.1:g.14482T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271620.8:c.100T>A MANE Select	ENSP00000271620.3:p.Ser34Thr
ENST00000650332.1:c.100T>A	ENSP00000497847.1:p.Ser34Thr
ENST00000271620.7:c.100T>A	ENSP00000271620.3:p.Ser34Thr
ENST00000368935.1:c.-50T>A	ENSP00000357931.1:n.-50T>A
ENST00000368936.5:c.-244T>A	ENSP00000357932.1:n.-244T>A
ENST00000368937.5:c.-26-7643T>A	ENSP00000357933.1:n.-26-7643T>A
ENST00000431193.5:c.-59T>A	ENSP00000392632.1:n.-59T>A
ENST00000450884.5:c.-211-6739T>A	ENSP00000387696.1:n.-211-6739T>A
ENST00000462440.5:n.283T>A
ENST00000467771.5:n.313T>A
ENST00000475722.5:n.266T>A
NM_001303229.1:c.-244T>A	NP_001290158.1:n.-244T>A
NM_001303242.1:c.100T>A	NP_001290171.1:p.Ser34Thr
NM_001303243.1:c.-160T>A	NP_001290172.1:n.-160T>A
NM_021222.2:c.100T>A	NP_067045.1:p.Ser34Thr
NR_130130.1:n.282-7643T>A
NR_130131.1:n.342T>A
NR_130132.1:n.342T>A
NR_130135.1:n.342T>A
XM_005245393.3:c.100T>A	XP_005245450.1:p.Ser34Thr
XM_005245397.3:c.-59T>A	XP_005245454.1:n.-59T>A
XM_011509830.1:c.100T>A	XP_011508132.1:p.Ser34Thr
XM_011509831.1:c.-70T>A	XP_011508133.1:n.-70T>A
XM_011509832.1:c.-211-6739T>A	XP_011508134.1:n.-211-6739T>A
XM_005245393.5:c.100T>A	XP_005245450.1:p.Ser34Thr
XM_011509832.2:c.-211-6739T>A	XP_011508134.1:n.-211-6739T>A
XM_017001955.2:c.100T>A	XP_016857444.1:p.Ser34Thr
XM_017001956.1:c.-59T>A	XP_016857445.1:n.-59T>A
XM_017001957.1:c.-70T>A	XP_016857446.1:n.-70T>A
NM_021222.3:c.100T>A MANE Select	NP_067045.1:p.Ser34Thr
NM_001303229.2:c.-244T>A	NP_001290158.1:n.-244T>A
NM_001303242.2:c.100T>A	NP_001290171.1:p.Ser34Thr
NM_001303243.2:c.-160T>A	NP_001290172.1:n.-160T>A
NR_130130.2:n.224-7643T>A
NR_130131.2:n.284T>A
NR_130132.2:n.284T>A
NR_130135.2:n.284T>A

Linked Data

Genomic Alleles

Transcript Alleles