Canonical Allele Identifier: CA466225816

Gene: AUH

Linked Data

• gnomAD v4: 9-91220925-T-G
• MyVariant Identifiers: chr9:g.93983207T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220925T>G , CM000671.2:g.91220925T>G	GRCh38
NC_000009.11:g.93983207T>G , CM000671.1:g.93983207T>G	GRCh37
NC_000009.10:g.93023028T>G	NCBI36
NG_008017.1:g.146000A>C , LRG_449:g.146000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.723A>C MANE Select	ENSP00000364883.5:p.Arg241=
ENST00000303617.5:c.636A>C	ENSP00000307334.5:p.Arg212=
ENST00000375731.8:c.723A>C	ENSP00000364883.4:p.Arg241=
NM_001306190.1:c.636A>C	NP_001293119.1:p.Arg212=
NM_001698.2:c.723A>C , LRG_449t1:c.723A>C	NP_001689.1:p.Arg241=
XM_005252066.2:c.753A>C	XP_005252123.1:p.Arg251=
XM_005252067.3:c.753A>C	XP_005252124.1:p.Arg251=
XM_005252069.3:c.753A>C	XP_005252126.1:p.Arg251=
XM_005252073.2:c.261A>C	XP_005252130.1:p.Arg87=
XM_006717150.2:c.666A>C	XP_006717213.1:p.Arg222=
XM_011518801.1:c.399A>C	XP_011517103.1:p.Arg133=
XM_011518802.1:c.396A>C	XP_011517104.1:p.Arg132=
NM_001351431.1:c.396A>C	NP_001338360.1:p.Arg132=
NM_001351432.1:c.396A>C	NP_001338361.1:p.Arg132=
NM_001351433.1:c.396A>C	NP_001338362.1:p.Arg132=
XM_005252066.3:c.753A>C	XP_005252123.1:p.Arg251=
XM_005252067.4:c.753A>C	XP_005252124.1:p.Arg251=
XM_005252069.4:c.753A>C	XP_005252126.1:p.Arg251=
XM_006717150.3:c.666A>C	XP_006717213.1:p.Arg222=
XM_017014849.1:c.723A>C	XP_016870338.1:p.Arg241=
XR_001746328.2:n.948A>C
XR_001746329.2:n.900A>C
NM_001698.3:c.723A>C MANE Select	NP_001689.1:p.Arg241=
NM_001306190.2:c.636A>C	NP_001293119.1:p.Arg212=
NM_001351431.2:c.396A>C	NP_001338360.1:p.Arg132=
NM_001351432.2:c.396A>C	NP_001338361.1:p.Arg132=
NM_001351433.2:c.396A>C	NP_001338362.1:p.Arg132=