Canonical Allele Identifier: CA373834995

Gene: AUH

Linked Data

• gnomAD v4: 9-91220809-G-C
• MyVariant Identifiers: chr9:g.93983091G>C (hg19) ; chr9:g.91220809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220809G>C , CM000671.2:g.91220809G>C	GRCh38
NC_000009.11:g.93983091G>C , CM000671.1:g.93983091G>C	GRCh37
NC_000009.10:g.93022912G>C	NCBI36
NG_008017.1:g.146116C>G , LRG_449:g.146116C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.839C>G MANE Select	ENSP00000364883.5:p.Pro280Arg
ENST00000303617.5:c.752C>G	ENSP00000307334.5:p.Pro251Arg
ENST00000375731.8:c.839C>G	ENSP00000364883.4:p.Pro280Arg
ENST00000473695.1:n.111C>G
NM_001306190.1:c.752C>G	NP_001293119.1:p.Pro251Arg
NM_001698.2:c.839C>G , LRG_449t1:c.839C>G	NP_001689.1:p.Pro280Arg
XM_005252066.2:c.869C>G	XP_005252123.1:p.Pro290Arg
XM_005252067.3:c.869C>G	XP_005252124.1:p.Pro290Arg
XM_005252069.3:c.869C>G	XP_005252126.1:p.Pro290Arg
XM_005252073.2:c.377C>G	XP_005252130.1:p.Pro126Arg
XM_006717150.2:c.782C>G	XP_006717213.1:p.Pro261Arg
XM_011518801.1:c.515C>G	XP_011517103.1:p.Pro172Arg
XM_011518802.1:c.512C>G	XP_011517104.1:p.Pro171Arg
NM_001351431.1:c.512C>G	NP_001338360.1:p.Pro171Arg
NM_001351432.1:c.512C>G	NP_001338361.1:p.Pro171Arg
NM_001351433.1:c.512C>G	NP_001338362.1:p.Pro171Arg
XM_005252066.3:c.869C>G	XP_005252123.1:p.Pro290Arg
XM_005252067.4:c.869C>G	XP_005252124.1:p.Pro290Arg
XM_005252069.4:c.869C>G	XP_005252126.1:p.Pro290Arg
XM_006717150.3:c.782C>G	XP_006717213.1:p.Pro261Arg
XM_017014849.1:c.839C>G	XP_016870338.1:p.Pro280Arg
XR_001746328.2:n.1064C>G
XR_001746329.2:n.1016C>G
NM_001698.3:c.839C>G MANE Select	NP_001689.1:p.Pro280Arg
NM_001306190.2:c.752C>G	NP_001293119.1:p.Pro251Arg
NM_001351431.2:c.512C>G	NP_001338360.1:p.Pro171Arg
NM_001351432.2:c.512C>G	NP_001338361.1:p.Pro171Arg
NM_001351433.2:c.512C>G	NP_001338362.1:p.Pro171Arg