Canonical Allele Identifier: CA2174343

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233320822C>T , CM000664.2:g.233320822C>T	GRCh38
NC_000002.11:g.234229468C>T , CM000664.1:g.234229468C>T	GRCh37
NC_000002.10:g.233894207C>T	NCBI36
NG_009116.1:g.18160C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.374C>T MANE Select	NP_000532.2:p.Thr125Met
ENST00000409110.6:c.374C>T MANE Select	ENSP00000386444.1:p.Thr125Met
NM_000541.4:c.374C>T	NP_000532.2:p.Thr125Met
ENST00000409110.5:c.374C>T	ENSP00000386444.1:p.Thr125Met
ENST00000412969.6:n.315+2027C>T
ENST00000447536.5:c.374C>T	ENSP00000408937.1:p.Thr125Met
ENST00000453143.5:c.*205C>T	ENSP00000404733.1:n.*205C>T
ENST00000462487.5:n.443C>T
ENST00000471884.5:n.545C>T
ENST00000474206.1:n.211C>T
ENST00000476500.5:n.416+2027C>T
ENST00000479450.1:n.140-2124C>T
XM_011511589.1:c.374C>T	XP_011509891.1:p.Thr125Met
XM_011511590.1:c.374C>T	XP_011509892.1:p.Thr125Met
XM_011511591.1:c.374C>T	XP_011509893.1:p.Thr125Met
XM_011511592.1:c.218C>T	XP_011509894.1:p.Thr73Met
XM_011511593.1:c.75+799C>T	XP_011509895.1:n.75+799C>T
XM_011511593.3:c.75+799C>T	XP_011509895.1:n.75+799C>T
XM_011511595.1:c.374C>T	XP_011509897.1:p.Thr125Met
XM_011511596.1:c.-29C>T	XP_011509898.1:n.-29C>T
XM_011511597.1:c.-28+2027C>T	XP_011509899.1:n.-28+2027C>T
XM_017004641.1:c.374C>T	XP_016860130.1:p.Thr125Met
XM_017004642.1:c.374C>T	XP_016860131.1:p.Thr125Met
XM_017004643.1:c.374C>T	XP_016860132.1:p.Thr125Met
XM_024453036.1:c.-29C>T	XP_024308804.1:n.-29C>T
XR_001738882.1:n.451C>T
XR_922978.1:n.570C>T
XR_922979.1:n.570C>T
XR_922980.1:n.669C>T
XR_922980.2:n.669C>T