Canonical Allele Identifier: CA2174524

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233331683C>T , CM000664.2:g.233331683C>T	GRCh38
NC_000002.11:g.234240329C>T , CM000664.1:g.234240329C>T	GRCh37
NC_000002.10:g.233905068C>T	NCBI36
NG_009116.1:g.29021C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.777C>T MANE Select	NP_000532.2:p.Tyr259=
ENST00000409110.6:c.777C>T MANE Select	ENSP00000386444.1:p.Tyr259=
NM_000541.4:c.777C>T	NP_000532.2:p.Tyr259=
ENST00000409110.5:c.777C>T	ENSP00000386444.1:p.Tyr259=
ENST00000412969.6:n.1997C>T
ENST00000469222.5:n.794C>T
ENST00000471884.5:n.2228C>T
ENST00000476500.5:n.2977C>T
ENST00000483231.5:n.161C>T
XM_011511589.1:c.777C>T	XP_011509891.1:p.Tyr259=
XM_011511590.1:c.777C>T	XP_011509892.1:p.Tyr259=
XM_011511591.1:c.777C>T	XP_011509893.1:p.Tyr259=
XM_011511592.1:c.621C>T	XP_011509894.1:p.Tyr207=
XM_011511593.1:c.477C>T	XP_011509895.1:p.Tyr159=
XM_011511593.3:c.477C>T	XP_011509895.1:p.Tyr159=
XM_011511594.1:c.405C>T	XP_011509896.1:p.Tyr135=
XM_011511595.1:c.777C>T	XP_011509897.1:p.Tyr259=
XM_011511596.1:c.375C>T	XP_011509898.1:p.Tyr125=
XM_011511597.1:c.375C>T	XP_011509899.1:p.Tyr125=
XM_017004641.1:c.777C>T	XP_016860130.1:p.Tyr259=
XM_017004642.1:c.777C>T	XP_016860131.1:p.Tyr259=
XM_017004643.1:c.777C>T	XP_016860132.1:p.Tyr259=
XM_024453036.1:c.375C>T	XP_024308804.1:p.Tyr125=
XR_001738882.1:n.854C>T
XR_922978.1:n.973C>T
XR_922979.1:n.973C>T
XR_922980.1:n.1072C>T
XR_922980.2:n.1072C>T