Canonical Allele Identifier: CA589583969

Gene: AUH

Linked Data

• dbSNP Id: rs780463864
• gnomAD v2: 9-93983070-C-T
• gnomAD v3: 9-91220788-C-T
• gnomAD v4: 9-91220788-C-T
• MyVariant Identifiers: chr9:g.93983070C>T (hg19) ; chr9:g.91220788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220788C>T , CM000671.2:g.91220788C>T	GRCh38
NC_000009.11:g.93983070C>T , CM000671.1:g.93983070C>T	GRCh37
NC_000009.10:g.93022891C>T	NCBI36
NG_008017.1:g.146137G>A , LRG_449:g.146137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.843+17G>A MANE Select	ENSP00000364883.5:n.843+17G>A
ENST00000303617.5:c.756+17G>A	ENSP00000307334.5:n.756+17G>A
ENST00000375731.8:c.843+17G>A	ENSP00000364883.4:n.843+17G>A
ENST00000473695.1:n.115+17G>A
NM_001306190.1:c.756+17G>A	NP_001293119.1:n.756+17G>A
NM_001698.2:c.843+17G>A , LRG_449t1:c.843+17G>A	NP_001689.1:n.843+17G>A
XM_005252066.2:c.873+17G>A	XP_005252123.1:n.873+17G>A
XM_005252067.3:c.873+17G>A	XP_005252124.1:n.873+17G>A
XM_005252069.3:c.873+17G>A	XP_005252126.1:n.873+17G>A
XM_005252073.2:c.381+17G>A	XP_005252130.1:n.381+17G>A
XM_006717150.2:c.786+17G>A	XP_006717213.1:n.786+17G>A
XM_011518801.1:c.519+17G>A	XP_011517103.1:n.519+17G>A
XM_011518802.1:c.516+17G>A	XP_011517104.1:n.516+17G>A
NM_001351431.1:c.516+17G>A	NP_001338360.1:n.516+17G>A
NM_001351432.1:c.516+17G>A	NP_001338361.1:n.516+17G>A
NM_001351433.1:c.516+17G>A	NP_001338362.1:n.516+17G>A
XM_005252066.3:c.873+17G>A	XP_005252123.1:n.873+17G>A
XM_005252067.4:c.873+17G>A	XP_005252124.1:n.873+17G>A
XM_005252069.4:c.873+17G>A	XP_005252126.1:n.873+17G>A
XM_006717150.3:c.786+17G>A	XP_006717213.1:n.786+17G>A
XM_017014849.1:c.843+17G>A	XP_016870338.1:n.843+17G>A
XR_001746328.2:n.1068+17G>A
XR_001746329.2:n.1020+17G>A
NM_001698.3:c.843+17G>A MANE Select	NP_001689.1:n.843+17G>A
NM_001306190.2:c.756+17G>A	NP_001293119.1:n.756+17G>A
NM_001351431.2:c.516+17G>A	NP_001338360.1:n.516+17G>A
NM_001351432.2:c.516+17G>A	NP_001338361.1:n.516+17G>A
NM_001351433.2:c.516+17G>A	NP_001338362.1:n.516+17G>A