Canonical Allele Identifier: CA359658192

Gene: NNT

Linked Data

• gnomAD v4: 5-43649309-G-T
• MyVariant Identifiers: chr5:g.43649411G>T (hg19) ; chr5:g.43649309G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.43649309G>T , CM000667.2:g.43649309G>T	GRCh38
NC_000005.9:g.43649411G>T , CM000667.1:g.43649411G>T	GRCh37
NC_000005.8:g.43685168G>T	NCBI36
NG_032869.1:g.51621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344920.9:c.1606+1G>T MANE Select	ENSP00000343873.4:n.1606+1G>T
ENST00000652986.1:c.*912+1G>T	ENSP00000499801.1:n.*912+1G>T
ENST00000653251.1:c.1606+1G>T	ENSP00000499281.1:n.1606+1G>T
ENST00000654405.1:c.1429+1G>T	ENSP00000499670.1:n.1429+1G>T
ENST00000654931.1:c.*1468+1G>T	ENSP00000499477.1:n.*1468+1G>T
ENST00000656666.1:c.1606+1G>T	ENSP00000499249.1:n.1606+1G>T
ENST00000657172.1:c.1213+1G>T	ENSP00000499431.1:n.1213+1G>T
ENST00000657973.1:c.*1722+1G>T	ENSP00000499581.1:n.*1722+1G>T
ENST00000658729.1:c.*1171+1G>T	ENSP00000499331.1:n.*1171+1G>T
ENST00000660676.1:c.*1365+1G>T	ENSP00000499491.1:n.*1365+1G>T
ENST00000662525.1:c.1606+1G>T	ENSP00000499639.1:n.1606+1G>T
ENST00000669601.1:c.1606+1G>T	ENSP00000499527.1:n.1606+1G>T
ENST00000670904.1:c.1606+1G>T	ENSP00000499611.1:n.1606+1G>T
ENST00000671668.1:c.1606+1G>T	ENSP00000499494.1:n.1606+1G>T
ENST00000264663.9:c.1606+1G>T	ENSP00000264663.5:n.1606+1G>T
ENST00000344920.8:c.1606+1G>T	ENSP00000343873.4:n.1606+1G>T
ENST00000512996.6:c.1213+1G>T	ENSP00000426343.1:n.1213+1G>T
NM_012343.3:c.1606+1G>T	NP_036475.3:n.1606+1G>T
NM_182977.2:c.1606+1G>T	NP_892022.2:n.1606+1G>T
XM_005248274.3:c.1606+1G>T	XP_005248331.1:n.1606+1G>T
XM_005248275.3:c.106+1G>T	XP_005248332.1:n.106+1G>T
XM_006714461.2:c.1213+1G>T	XP_006714524.1:n.1213+1G>T
XM_011514001.1:c.1606+1G>T	XP_011512303.1:n.1606+1G>T
XM_011514002.1:c.1213+1G>T	XP_011512304.1:n.1213+1G>T
NM_001331026.1:c.1213+1G>T	NP_001317955.1:n.1213+1G>T
XM_005248274.5:c.1606+1G>T	XP_005248331.1:n.1606+1G>T
XM_005248275.5:c.106+1G>T	XP_005248332.1:n.106+1G>T
XM_006714461.4:c.1213+1G>T	XP_006714524.1:n.1213+1G>T
XM_011514001.3:c.1606+1G>T	XP_011512303.1:n.1606+1G>T
XM_017009293.2:c.1606+1G>T	XP_016864782.1:n.1606+1G>T
XM_024446009.1:c.106+1G>T	XP_024301777.1:n.106+1G>T
NM_182977.3:c.1606+1G>T MANE Select	NP_892022.2:n.1606+1G>T
NM_001331026.2:c.1213+1G>T	NP_001317955.1:n.1213+1G>T
NM_012343.4:c.1606+1G>T	NP_036475.3:n.1606+1G>T