Canonical Allele Identifier: CA186334364

Gene: TG SLA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133095374G>A , CM000670.2:g.133095374G>A	GRCh38
NC_000008.10:g.134107618G>A , CM000670.1:g.134107618G>A	GRCh37
NC_000008.9:g.134176800G>A	NCBI36
NG_015832.1:g.233414G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001045556.3:c.-319+7179C>T (SLA) MANE Select	NP_001039021.1:n.-319+7179C>T
NM_003235.5:c.7404+166G>A (TG) MANE Select	NP_003226.4:n.7404+166G>A
ENST00000220616.9:c.7404+166G>A (TG) MANE Select	ENSP00000220616.4:n.7404+166G>A
ENST00000338087.10:c.-319+7179C>T (SLA) MANE Select	ENSP00000337548.5:n.-319+7179C>T
NM_001045556.2:c.-319+7179C>T (SLA)	NP_001039021.1:n.-319+7179C>T
NM_001045557.2:c.11+7179C>T (SLA)	NP_001039022.2:n.11+7179C>T
NM_001045557.3:c.11+7179C>T (SLA)	NP_001039022.2:n.11+7179C>T
NM_001282964.1:c.11+7179C>T (SLA)	NP_001269893.1:n.11+7179C>T
NM_001282964.2:c.11+7179C>T (SLA)	NP_001269893.1:n.11+7179C>T
NM_001282965.1:c.-264+7179C>T (SLA)	NP_001269894.1:n.-264+7179C>T
NM_001282965.2:c.-264+7179C>T (SLA)	NP_001269894.1:n.-264+7179C>T
NM_003235.4:c.7404+166G>A (TG)	NP_003226.4:n.7404+166G>A
ENST00000220616.8:c.7404+166G>A (TG)	ENSP00000220616.4:n.7404+166G>A
ENST00000338087.9:c.-319+7179C>T (SLA)	ENSP00000337548.5:n.-319+7179C>T
ENST00000395352.7:c.11+7179C>T (SLA)	ENSP00000378759.3:n.11+7179C>T
ENST00000517648.5:c.11+7179C>T (SLA)	ENSP00000428559.1:n.11+7179C>T
ENST00000517932.1:n.61-5259C>T (SLA)
ENST00000518565.5:n.324+7179C>T (SLA)
ENST00000519178.5:c.2770+166G>A (TG)
ENST00000519341.5:c.-442+7179C>T (SLA)	ENSP00000429681.1:n.-442+7179C>T
ENST00000519543.5:c.1803+166G>A (TG)	ENSP00000430430.1:n.1803+166G>A
ENST00000519558.5:c.-468+7179C>T (SLA)	ENSP00000429143.1:n.-468+7179C>T
ENST00000519747.5:c.-419+7179C>T (SLA)	ENSP00000428971.1:n.-419+7179C>T
ENST00000521302.5:c.-388+7179C>T (SLA)	ENSP00000430184.1:n.-388+7179C>T
ENST00000521823.5:n.76+7179C>T (SLA)
ENST00000522119.5:c.-41+7026C>T (SLA)	ENSP00000430596.1:n.-41+7026C>T
ENST00000522809.1:n.50+166G>A (TG)
ENST00000522946.5:n.143+7026C>T (SLA)
ENST00000522996.5:n.586+166G>A (TG)
ENST00000523610.5:c.-319+7026C>T (SLA)	ENSP00000428087.1:n.-319+7026C>T
ENST00000523756.5:c.4059+166G>A (TG)
ENST00000524345.5:c.-264+7179C>T (SLA)	ENSP00000427928.1:n.-264+7179C>T
XM_005251038.3:c.7212+166G>A (TG)	XP_005251095.1:n.7212+166G>A
XM_005251038.4:c.7212+166G>A (TG)	XP_005251095.1:n.7212+166G>A
XM_006716622.2:c.7341+166G>A (TG)	XP_006716685.1:n.7341+166G>A
XM_006716622.3:c.7341+166G>A (TG)	XP_006716685.1:n.7341+166G>A
XM_017013739.2:c.-542+7179C>T (SLA)	XP_016869228.1:n.-542+7179C>T
XM_017013793.1:c.7338+166G>A (TG)	XP_016869282.1:n.7338+166G>A
XM_017013794.1:c.7404+166G>A (TG)	XP_016869283.1:n.7404+166G>A
XM_017013795.1:c.7233+166G>A (TG)	XP_016869284.1:n.7233+166G>A
XM_017013796.1:c.7185+166G>A (TG)	XP_016869285.1:n.7185+166G>A
XM_017013797.1:c.7143+166G>A (TG)	XP_016869286.1:n.7143+166G>A