Canonical Allele Identifier: CA195893096

Gene: AUH

Linked Data

• ClinVar Variation Id: 1187039
• ClinVar RCV Id: RCV001546352
• dbSNP Id: rs75728553
• gnomAD v2: 9-93982958-A-C
• gnomAD v3: 9-91220676-A-C
• gnomAD v4: 9-91220676-A-C
• MyVariant Identifiers: chr9:g.93982958A>C (hg19) ; chr9:g.91220676A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220676A>C , CM000671.2:g.91220676A>C	GRCh38
NC_000009.11:g.93982958A>C , CM000671.1:g.93982958A>C	GRCh37
NC_000009.10:g.93022779A>C	NCBI36
NG_008017.1:g.146249T>G , LRG_449:g.146249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.843+129T>G MANE Select	ENSP00000364883.5:n.843+129T>G
ENST00000303617.5:c.756+129T>G	ENSP00000307334.5:n.756+129T>G
ENST00000375731.8:c.843+129T>G	ENSP00000364883.4:n.843+129T>G
ENST00000473695.1:n.115+129T>G
NM_001306190.1:c.756+129T>G	NP_001293119.1:n.756+129T>G
NM_001698.2:c.843+129T>G , LRG_449t1:c.843+129T>G	NP_001689.1:n.843+129T>G
XM_005252066.2:c.873+129T>G	XP_005252123.1:n.873+129T>G
XM_005252067.3:c.873+129T>G	XP_005252124.1:n.873+129T>G
XM_005252069.3:c.873+129T>G	XP_005252126.1:n.873+129T>G
XM_005252073.2:c.381+129T>G	XP_005252130.1:n.381+129T>G
XM_006717150.2:c.786+129T>G	XP_006717213.1:n.786+129T>G
XM_011518801.1:c.519+129T>G	XP_011517103.1:n.519+129T>G
XM_011518802.1:c.516+129T>G	XP_011517104.1:n.516+129T>G
NM_001351431.1:c.516+129T>G	NP_001338360.1:n.516+129T>G
NM_001351432.1:c.516+129T>G	NP_001338361.1:n.516+129T>G
NM_001351433.1:c.516+129T>G	NP_001338362.1:n.516+129T>G
XM_005252066.3:c.873+129T>G	XP_005252123.1:n.873+129T>G
XM_005252067.4:c.873+129T>G	XP_005252124.1:n.873+129T>G
XM_005252069.4:c.873+129T>G	XP_005252126.1:n.873+129T>G
XM_006717150.3:c.786+129T>G	XP_006717213.1:n.786+129T>G
XM_017014849.1:c.843+129T>G	XP_016870338.1:n.843+129T>G
XR_001746328.2:n.1068+129T>G
XR_001746329.2:n.1020+129T>G
NM_001698.3:c.843+129T>G MANE Select	NP_001689.1:n.843+129T>G
NM_001306190.2:c.756+129T>G	NP_001293119.1:n.756+129T>G
NM_001351431.2:c.516+129T>G	NP_001338360.1:n.516+129T>G
NM_001351432.2:c.516+129T>G	NP_001338361.1:n.516+129T>G
NM_001351433.2:c.516+129T>G	NP_001338362.1:n.516+129T>G