Canonical Allele Identifier: CA252433634

Gene: DACH1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.71473964A>G , CM000675.2:g.71473964A>G	GRCh38
NC_000013.10:g.72048096A>G , CM000675.1:g.72048096A>G	GRCh37
NC_000013.9:g.70946097A>G	NCBI36
NG_011849.3:g.398229T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_080759.6:c.2083+1177T>C MANE Select	NP_542937.3:n.2083+1177T>C
ENST00000613252.5:c.2083+1177T>C MANE Select	ENSP00000482245.1:n.2083+1177T>C
NM_001366712.1:c.2239+1177T>C	NP_001353641.1:n.2239+1177T>C
NM_004392.6:c.1477+1177T>C	NP_004383.4:n.1477+1177T>C
NM_004392.7:c.1477+1177T>C	NP_004383.4:n.1477+1177T>C
NM_080759.5:c.2083+1177T>C	NP_542937.3:n.2083+1177T>C
NM_080760.5:c.1639+1177T>C	NP_542938.3:n.1639+1177T>C
NM_080760.6:c.1639+1177T>C	NP_542938.3:n.1639+1177T>C
ENST00000611519.4:c.1639+1177T>C	ENSP00000482493.1:n.1639+1177T>C
ENST00000613252.4:c.2083+1177T>C	ENSP00000482245.1:n.2083+1177T>C
ENST00000619232.1:c.2239+1177T>C	ENSP00000482797.1:n.2239+1177T>C
ENST00000619232.2:c.2239+1177T>C	ENSP00000482797.1:n.2239+1177T>C
ENST00000620444.4:c.1477+1177T>C	ENSP00000481551.1:n.1477+1177T>C
ENST00000706274.1:c.1464+1177T>C
ENST00000706275.1:c.1060+1177T>C	ENSP00000516321.1:n.1060+1177T>C
XM_011534939.1:c.2239+1177T>C	XP_011533241.1:n.2239+1177T>C
XM_011534942.1:c.1060+1177T>C	XP_011533244.1:n.1060+1177T>C
XM_011534942.3:c.1060+1177T>C	XP_011533244.1:n.1060+1177T>C
XM_017020396.1:c.1216+1177T>C	XP_016875885.1:n.1216+1177T>C