Canonical Allele Identifier: CA373835069

Gene: AUH

Linked Data

• dbSNP Id: rs1242473990
• gnomAD v2: 9-93983125-T-C
• gnomAD v3: 9-91220843-T-C
• gnomAD v4: 9-91220843-T-C
• MyVariant Identifiers: chr9:g.93983125T>C (hg19) ; chr9:g.91220843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220843T>C , CM000671.2:g.91220843T>C	GRCh38
NC_000009.11:g.93983125T>C , CM000671.1:g.93983125T>C	GRCh37
NC_000009.10:g.93022946T>C	NCBI36
NG_008017.1:g.146082A>G , LRG_449:g.146082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.805A>G MANE Select	ENSP00000364883.5:p.Arg269Gly
ENST00000303617.5:c.718A>G	ENSP00000307334.5:p.Arg240Gly
ENST00000375731.8:c.805A>G	ENSP00000364883.4:p.Arg269Gly
ENST00000473695.1:n.77A>G
NM_001306190.1:c.718A>G	NP_001293119.1:p.Arg240Gly
NM_001698.2:c.805A>G , LRG_449t1:c.805A>G	NP_001689.1:p.Arg269Gly
XM_005252066.2:c.835A>G	XP_005252123.1:p.Arg279Gly
XM_005252067.3:c.835A>G	XP_005252124.1:p.Arg279Gly
XM_005252069.3:c.835A>G	XP_005252126.1:p.Arg279Gly
XM_005252073.2:c.343A>G	XP_005252130.1:p.Arg115Gly
XM_006717150.2:c.748A>G	XP_006717213.1:p.Arg250Gly
XM_011518801.1:c.481A>G	XP_011517103.1:p.Arg161Gly
XM_011518802.1:c.478A>G	XP_011517104.1:p.Arg160Gly
NM_001351431.1:c.478A>G	NP_001338360.1:p.Arg160Gly
NM_001351432.1:c.478A>G	NP_001338361.1:p.Arg160Gly
NM_001351433.1:c.478A>G	NP_001338362.1:p.Arg160Gly
XM_005252066.3:c.835A>G	XP_005252123.1:p.Arg279Gly
XM_005252067.4:c.835A>G	XP_005252124.1:p.Arg279Gly
XM_005252069.4:c.835A>G	XP_005252126.1:p.Arg279Gly
XM_006717150.3:c.748A>G	XP_006717213.1:p.Arg250Gly
XM_017014849.1:c.805A>G	XP_016870338.1:p.Arg269Gly
XR_001746328.2:n.1030A>G
XR_001746329.2:n.982A>G
NM_001698.3:c.805A>G MANE Select	NP_001689.1:p.Arg269Gly
NM_001306190.2:c.718A>G	NP_001293119.1:p.Arg240Gly
NM_001351431.2:c.478A>G	NP_001338360.1:p.Arg160Gly
NM_001351432.2:c.478A>G	NP_001338361.1:p.Arg160Gly
NM_001351433.2:c.478A>G	NP_001338362.1:p.Arg160Gly