Canonical Allele Identifier: CA13833162

Gene: DACH1

Linked Data

• dbSNP Id: rs9919839
• gnomAD v2: 13-72174353-C-T
• gnomAD v3: 13-71600221-C-T
• gnomAD v4: 13-71600221-C-T
• MyVariant Identifiers: chr13:g.72174353C>T (hg19) ; chr13:g.71600221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.71600221C>T , CM000675.2:g.71600221C>T	GRCh38
NC_000013.10:g.72174353C>T , CM000675.1:g.72174353C>T	GRCh37
NC_000013.9:g.71072354C>T	NCBI36
NG_011849.3:g.271972G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000619232.2:c.1127-26648G>A	ENSP00000482797.1:n.1127-26648G>A
ENST00000706274.1:c.508-27209G>A
ENST00000706275.1:c.104-27209G>A	ENSP00000516321.1:n.104-27209G>A
ENST00000613252.5:c.1127-27209G>A MANE Select	ENSP00000482245.1:n.1127-27209G>A
ENST00000611519.4:c.1126+30335G>A	ENSP00000482493.1:n.1126+30335G>A
ENST00000613252.4:c.1127-27209G>A	ENSP00000482245.1:n.1127-27209G>A
ENST00000619232.1:c.1127-26648G>A	ENSP00000482797.1:n.1127-26648G>A
ENST00000620444.4:c.964+81574G>A	ENSP00000481551.1:n.964+81574G>A
NM_004392.6:c.964+81574G>A	NP_004383.4:n.964+81574G>A
NM_080759.5:c.1127-27209G>A	NP_542937.3:n.1127-27209G>A
NM_080760.5:c.1126+30335G>A	NP_542938.3:n.1126+30335G>A
XM_011534939.1:c.1127-26648G>A	XP_011533241.1:n.1127-26648G>A
XM_011534940.1:c.1127-26648G>A	XP_011533242.1:n.1127-26648G>A
XM_011534942.1:c.104-27209G>A	XP_011533244.1:n.104-27209G>A
NM_001366712.1:c.1127-26648G>A	NP_001353641.1:n.1127-26648G>A
XM_011534940.2:c.1127-26648G>A	XP_011533242.1:n.1127-26648G>A
XM_011534942.3:c.104-27209G>A	XP_011533244.1:n.104-27209G>A
XM_017020396.1:c.104-26648G>A	XP_016875885.1:n.104-26648G>A
NM_080759.6:c.1127-27209G>A MANE Select	NP_542937.3:n.1127-27209G>A
NM_004392.7:c.964+81574G>A	NP_004383.4:n.964+81574G>A
NM_080760.6:c.1126+30335G>A	NP_542938.3:n.1126+30335G>A