Canonical Allele Identifier: CA373835262

Gene: AUH

Linked Data

• gnomAD v4: 9-91220934-G-T
• COSMIC: COSM1184251
• MyVariant Identifiers: chr9:g.93983216G>T (hg19) ; chr9:g.91220934G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220934G>T , CM000671.2:g.91220934G>T	GRCh38
NC_000009.11:g.93983216G>T , CM000671.1:g.93983216G>T	GRCh37
NC_000009.10:g.93023037G>T	NCBI36
NG_008017.1:g.145991C>A , LRG_449:g.145991C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.714C>A MANE Select	ENSP00000364883.5:p.Phe238Leu
ENST00000303617.5:c.627C>A	ENSP00000307334.5:p.Phe209Leu
ENST00000375731.8:c.714C>A	ENSP00000364883.4:p.Phe238Leu
NM_001306190.1:c.627C>A	NP_001293119.1:p.Phe209Leu
NM_001698.2:c.714C>A , LRG_449t1:c.714C>A	NP_001689.1:p.Phe238Leu
XM_005252066.2:c.744C>A	XP_005252123.1:p.Phe248Leu
XM_005252067.3:c.744C>A	XP_005252124.1:p.Phe248Leu
XM_005252069.3:c.744C>A	XP_005252126.1:p.Phe248Leu
XM_005252073.2:c.252C>A	XP_005252130.1:p.Phe84Leu
XM_006717150.2:c.657C>A	XP_006717213.1:p.Phe219Leu
XM_011518801.1:c.390C>A	XP_011517103.1:p.Phe130Leu
XM_011518802.1:c.387C>A	XP_011517104.1:p.Phe129Leu
NM_001351431.1:c.387C>A	NP_001338360.1:p.Phe129Leu
NM_001351432.1:c.387C>A	NP_001338361.1:p.Phe129Leu
NM_001351433.1:c.387C>A	NP_001338362.1:p.Phe129Leu
XM_005252066.3:c.744C>A	XP_005252123.1:p.Phe248Leu
XM_005252067.4:c.744C>A	XP_005252124.1:p.Phe248Leu
XM_005252069.4:c.744C>A	XP_005252126.1:p.Phe248Leu
XM_006717150.3:c.657C>A	XP_006717213.1:p.Phe219Leu
XM_017014849.1:c.714C>A	XP_016870338.1:p.Phe238Leu
XR_001746328.2:n.939C>A
XR_001746329.2:n.891C>A
NM_001698.3:c.714C>A MANE Select	NP_001689.1:p.Phe238Leu
NM_001306190.2:c.627C>A	NP_001293119.1:p.Phe209Leu
NM_001351431.2:c.387C>A	NP_001338360.1:p.Phe129Leu
NM_001351432.2:c.387C>A	NP_001338361.1:p.Phe129Leu
NM_001351433.2:c.387C>A	NP_001338362.1:p.Phe129Leu