Canonical Allele Identifier: CA373835239

Gene: AUH

Linked Data

• gnomAD v4: 9-91220921-G-C
• MyVariant Identifiers: chr9:g.93983203G>C (hg19) ; chr9:g.91220921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220921G>C , CM000671.2:g.91220921G>C	GRCh38
NC_000009.11:g.93983203G>C , CM000671.1:g.93983203G>C	GRCh37
NC_000009.10:g.93023024G>C	NCBI36
NG_008017.1:g.146004C>G , LRG_449:g.146004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.727C>G MANE Select	ENSP00000364883.5:p.Leu243Val
ENST00000303617.5:c.640C>G	ENSP00000307334.5:p.Leu214Val
ENST00000375731.8:c.727C>G	ENSP00000364883.4:p.Leu243Val
NM_001306190.1:c.640C>G	NP_001293119.1:p.Leu214Val
NM_001698.2:c.727C>G , LRG_449t1:c.727C>G	NP_001689.1:p.Leu243Val
XM_005252066.2:c.757C>G	XP_005252123.1:p.Leu253Val
XM_005252067.3:c.757C>G	XP_005252124.1:p.Leu253Val
XM_005252069.3:c.757C>G	XP_005252126.1:p.Leu253Val
XM_005252073.2:c.265C>G	XP_005252130.1:p.Leu89Val
XM_006717150.2:c.670C>G	XP_006717213.1:p.Leu224Val
XM_011518801.1:c.403C>G	XP_011517103.1:p.Leu135Val
XM_011518802.1:c.400C>G	XP_011517104.1:p.Leu134Val
NM_001351431.1:c.400C>G	NP_001338360.1:p.Leu134Val
NM_001351432.1:c.400C>G	NP_001338361.1:p.Leu134Val
NM_001351433.1:c.400C>G	NP_001338362.1:p.Leu134Val
XM_005252066.3:c.757C>G	XP_005252123.1:p.Leu253Val
XM_005252067.4:c.757C>G	XP_005252124.1:p.Leu253Val
XM_005252069.4:c.757C>G	XP_005252126.1:p.Leu253Val
XM_006717150.3:c.670C>G	XP_006717213.1:p.Leu224Val
XM_017014849.1:c.727C>G	XP_016870338.1:p.Leu243Val
XR_001746328.2:n.952C>G
XR_001746329.2:n.904C>G
NM_001698.3:c.727C>G MANE Select	NP_001689.1:p.Leu243Val
NM_001306190.2:c.640C>G	NP_001293119.1:p.Leu214Val
NM_001351431.2:c.400C>G	NP_001338360.1:p.Leu134Val
NM_001351432.2:c.400C>G	NP_001338361.1:p.Leu134Val
NM_001351433.2:c.400C>G	NP_001338362.1:p.Leu134Val