Canonical Allele Identifier: CA2174668

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233342315C>T , CM000664.2:g.233342315C>T	GRCh38
NC_000002.11:g.234250961C>T , CM000664.1:g.234250961C>T	GRCh37
NC_000002.10:g.233915700C>T	NCBI36
NG_009116.1:g.39653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.1091C>T MANE Select	NP_000532.2:p.Pro364Leu
ENST00000409110.6:c.1091C>T MANE Select	ENSP00000386444.1:p.Pro364Leu
NM_000541.4:c.1091C>T	NP_000532.2:p.Pro364Leu
ENST00000409110.5:c.1091C>T	ENSP00000386444.1:p.Pro364Leu
ENST00000412969.6:n.2311C>T
ENST00000469222.5:n.1108C>T
ENST00000471884.5:n.3122C>T
ENST00000474220.5:n.297C>T
ENST00000476500.5:n.6390C>T
ENST00000483231.5:n.475C>T
XM_011511589.1:c.1091C>T	XP_011509891.1:p.Pro364Leu
XM_011511590.1:c.1091C>T	XP_011509892.1:p.Pro364Leu
XM_011511591.1:c.1091C>T	XP_011509893.1:p.Pro364Leu
XM_011511592.1:c.935C>T	XP_011509894.1:p.Pro312Leu
XM_011511593.1:c.791C>T	XP_011509895.1:p.Pro264Leu
XM_011511593.3:c.791C>T	XP_011509895.1:p.Pro264Leu
XM_011511594.1:c.719C>T	XP_011509896.1:p.Pro240Leu
XM_011511596.1:c.689C>T	XP_011509898.1:p.Pro230Leu
XM_011511597.1:c.689C>T	XP_011509899.1:p.Pro230Leu
XM_017004641.1:c.1091C>T	XP_016860130.1:p.Pro364Leu
XM_017004642.1:c.1091C>T	XP_016860131.1:p.Pro364Leu
XM_024453036.1:c.689C>T	XP_024308804.1:p.Pro230Leu
XR_001738882.1:n.1168C>T
XR_922978.1:n.1287C>T
XR_922979.1:n.1287C>T
XR_922980.1:n.1386C>T
XR_922980.2:n.1386C>T