Canonical Allele Identifier: CA373836859

Gene: AUH

Linked Data

• ClinVar Variation Id: 936310
• ClinVar RCV Id: RCV001205086
• dbSNP Id: rs1827482942
• gnomAD v4: 9-91297998-T-G
• MyVariant Identifiers: chr9:g.94060280T>G (hg19) ; chr9:g.91297998T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91297998T>G , CM000671.2:g.91297998T>G	GRCh38
NC_000009.11:g.94060280T>G , CM000671.1:g.94060280T>G	GRCh37
NC_000009.10:g.93100101T>G	NCBI36
NG_008017.1:g.68927A>C , LRG_449:g.68927A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375731.9:c.584A>C MANE Select	ENSP00000364883.5:p.Asp195Ala
ENST00000303617.5:c.497A>C	ENSP00000307334.5:p.Asp166Ala
ENST00000375731.8:c.584A>C	ENSP00000364883.4:p.Asp195Ala
ENST00000478465.5:n.744A>C
NM_001306190.1:c.497A>C	NP_001293119.1:p.Asp166Ala
NM_001698.2:c.584A>C , LRG_449t1:c.584A>C	NP_001689.1:p.Asp195Ala
XM_005252066.2:c.614A>C	XP_005252123.1:p.Asp205Ala
XM_005252067.3:c.614A>C	XP_005252124.1:p.Asp205Ala
XM_005252069.3:c.614A>C	XP_005252126.1:p.Asp205Ala
XM_005252072.1:c.584A>C	XP_005252129.1:p.Asp195Ala
XM_005252073.2:c.122A>C	XP_005252130.1:p.Asp41Ala
XM_006717150.2:c.527A>C	XP_006717213.1:p.Asp176Ala
XM_011518800.1:c.614A>C	XP_011517102.1:p.Asp205Ala
XM_011518801.1:c.260A>C	XP_011517103.1:p.Asp87Ala
XM_011518802.1:c.257A>C	XP_011517104.1:p.Asp86Ala
NM_001351431.1:c.257A>C	NP_001338360.1:p.Asp86Ala
NM_001351432.1:c.257A>C	NP_001338361.1:p.Asp86Ala
NM_001351433.1:c.257A>C	NP_001338362.1:p.Asp86Ala
XM_005252066.3:c.614A>C	XP_005252123.1:p.Asp205Ala
XM_005252067.4:c.614A>C	XP_005252124.1:p.Asp205Ala
XM_005252069.4:c.614A>C	XP_005252126.1:p.Asp205Ala
XM_005252072.2:c.584A>C	XP_005252129.1:p.Asp195Ala
XM_006717150.3:c.527A>C	XP_006717213.1:p.Asp176Ala
XM_011518800.3:c.614A>C	XP_011517102.1:p.Asp205Ala
XM_017014849.1:c.584A>C	XP_016870338.1:p.Asp195Ala
XR_001746328.2:n.667A>C
XR_001746329.2:n.619A>C
NM_001698.3:c.584A>C MANE Select	NP_001689.1:p.Asp195Ala
NM_001306190.2:c.497A>C	NP_001293119.1:p.Asp166Ala
NM_001351431.2:c.257A>C	NP_001338360.1:p.Asp86Ala
NM_001351432.2:c.257A>C	NP_001338361.1:p.Asp86Ala
NM_001351433.2:c.257A>C	NP_001338362.1:p.Asp86Ala