Canonical Allele Identifier: CA466225977

Gene: AUH

Linked Data

• gnomAD v4: 9-91220976-C-T
• MyVariant Identifiers: chr9:g.93983258C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220976C>T , CM000671.2:g.91220976C>T	GRCh38
NC_000009.11:g.93983258C>T , CM000671.1:g.93983258C>T	GRCh37
NC_000009.10:g.93023079C>T	NCBI36
NG_008017.1:g.145949G>A , LRG_449:g.145949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.672G>A MANE Select	ENSP00000364883.5:p.Leu224=
ENST00000303617.5:c.585G>A	ENSP00000307334.5:p.Leu195=
ENST00000375731.8:c.672G>A	ENSP00000364883.4:p.Leu224=
NM_001306190.1:c.585G>A	NP_001293119.1:p.Leu195=
NM_001698.2:c.672G>A , LRG_449t1:c.672G>A	NP_001689.1:p.Leu224=
XM_005252066.2:c.702G>A	XP_005252123.1:p.Leu234=
XM_005252067.3:c.702G>A	XP_005252124.1:p.Leu234=
XM_005252069.3:c.702G>A	XP_005252126.1:p.Leu234=
XM_005252073.2:c.210G>A	XP_005252130.1:p.Leu70=
XM_006717150.2:c.615G>A	XP_006717213.1:p.Leu205=
XM_011518801.1:c.348G>A	XP_011517103.1:p.Leu116=
XM_011518802.1:c.345G>A	XP_011517104.1:p.Leu115=
NM_001351431.1:c.345G>A	NP_001338360.1:p.Leu115=
NM_001351432.1:c.345G>A	NP_001338361.1:p.Leu115=
NM_001351433.1:c.345G>A	NP_001338362.1:p.Leu115=
XM_005252066.3:c.702G>A	XP_005252123.1:p.Leu234=
XM_005252067.4:c.702G>A	XP_005252124.1:p.Leu234=
XM_005252069.4:c.702G>A	XP_005252126.1:p.Leu234=
XM_006717150.3:c.615G>A	XP_006717213.1:p.Leu205=
XM_017014849.1:c.672G>A	XP_016870338.1:p.Leu224=
XR_001746328.2:n.897G>A
XR_001746329.2:n.849G>A
NM_001698.3:c.672G>A MANE Select	NP_001689.1:p.Leu224=
NM_001306190.2:c.585G>A	NP_001293119.1:p.Leu195=
NM_001351431.2:c.345G>A	NP_001338360.1:p.Leu115=
NM_001351432.2:c.345G>A	NP_001338361.1:p.Leu115=
NM_001351433.2:c.345G>A	NP_001338362.1:p.Leu115=