Canonical Allele Identifier: CA2581282563

Gene: GSE1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85672958G>C , CM000678.2:g.85672958G>C	GRCh38
NC_000016.9:g.85706564G>C , CM000678.1:g.85706564G>C	GRCh37
NC_000016.8:g.84264065G>C	NCBI36
NG_054715.1:g.508447G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014615.5:c.*419G>C MANE Select	NP_055430.1:n.*419G>C
ENST00000253458.12:c.*419G>C MANE Select	ENSP00000253458.6:n.*419G>C
NM_001134473.2:c.*419G>C	NP_001127945.1:n.*419G>C
NM_001134473.3:c.*419G>C	NP_001127945.1:n.*419G>C
NM_001278184.1:c.*419G>C	NP_001265113.1:n.*419G>C
NM_001278184.2:c.*419G>C	NP_001265113.1:n.*419G>C
NM_001278184.3:c.*419G>C	NP_001265113.1:n.*419G>C
NM_014615.3:c.*419G>C	NP_055430.1:n.*419G>C
NM_014615.4:c.*419G>C	NP_055430.1:n.*419G>C
ENST00000253458.11:c.*419G>C	ENSP00000253458.6:n.*419G>C
ENST00000393243.5:c.*419G>C	ENSP00000376934.1:n.*419G>C
ENST00000405402.6:c.*419G>C	ENSP00000384839.2:n.*419G>C
ENST00000412692.5:c.3379G>C
ENST00000469381.1:n.2639G>C
XM_005255859.3:c.*419G>C	XP_005255916.2:n.*419G>C
XM_005255859.5:c.*419G>C	XP_005255916.3:n.*419G>C
XM_005255860.2:c.*419G>C	XP_005255917.2:n.*419G>C
XM_005255860.3:c.*419G>C	XP_005255917.3:n.*419G>C
XM_005255861.3:c.*419G>C	XP_005255918.2:n.*419G>C
XM_005255861.5:c.*419G>C	XP_005255918.3:n.*419G>C
XM_005255862.2:c.*419G>C	XP_005255919.2:n.*419G>C
XM_005255863.3:c.*419G>C	XP_005255920.1:n.*419G>C
XM_005255863.4:c.*419G>C	XP_005255920.1:n.*419G>C
XM_005255864.3:c.*419G>C	XP_005255921.1:n.*419G>C
XM_005255864.4:c.*419G>C	XP_005255921.1:n.*419G>C
XM_005255865.3:c.*419G>C	XP_005255922.1:n.*419G>C
XM_005255865.4:c.*419G>C	XP_005255922.1:n.*419G>C
XM_011522965.1:c.*419G>C	XP_011521267.1:n.*419G>C
XM_011522965.3:c.*419G>C	XP_011521267.1:n.*419G>C
XM_011522966.1:c.*419G>C	XP_011521268.1:n.*419G>C
XM_011522966.3:c.*419G>C	XP_011521268.1:n.*419G>C
XM_011522967.1:c.*419G>C	XP_011521269.1:n.*419G>C
XM_017023083.1:c.*419G>C	XP_016878572.1:n.*419G>C