Canonical Allele Identifier: CA373835380

Gene: AUH

Linked Data

• ClinVar Variation Id: 1428376
• ClinVar RCV Id: RCV001936279
• dbSNP Id: rs1827104191
• gnomAD v4: 9-91220992-C-G
• MyVariant Identifiers: chr9:g.93983274C>G (hg19) ; chr9:g.91220992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220992C>G , CM000671.2:g.91220992C>G	GRCh38
NC_000009.11:g.93983274C>G , CM000671.1:g.93983274C>G	GRCh37
NC_000009.10:g.93023095C>G	NCBI36
NG_008017.1:g.145933G>C , LRG_449:g.145933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.656G>C MANE Select	ENSP00000364883.5:p.Gly219Ala
ENST00000303617.5:c.569G>C	ENSP00000307334.5:p.Gly190Ala
ENST00000375731.8:c.656G>C	ENSP00000364883.4:p.Gly219Ala
NM_001306190.1:c.569G>C	NP_001293119.1:p.Gly190Ala
NM_001698.2:c.656G>C , LRG_449t1:c.656G>C	NP_001689.1:p.Gly219Ala
XM_005252066.2:c.686G>C	XP_005252123.1:p.Gly229Ala
XM_005252067.3:c.686G>C	XP_005252124.1:p.Gly229Ala
XM_005252069.3:c.686G>C	XP_005252126.1:p.Gly229Ala
XM_005252073.2:c.194G>C	XP_005252130.1:p.Gly65Ala
XM_006717150.2:c.599G>C	XP_006717213.1:p.Gly200Ala
XM_011518801.1:c.332G>C	XP_011517103.1:p.Gly111Ala
XM_011518802.1:c.329G>C	XP_011517104.1:p.Gly110Ala
NM_001351431.1:c.329G>C	NP_001338360.1:p.Gly110Ala
NM_001351432.1:c.329G>C	NP_001338361.1:p.Gly110Ala
NM_001351433.1:c.329G>C	NP_001338362.1:p.Gly110Ala
XM_005252066.3:c.686G>C	XP_005252123.1:p.Gly229Ala
XM_005252067.4:c.686G>C	XP_005252124.1:p.Gly229Ala
XM_005252069.4:c.686G>C	XP_005252126.1:p.Gly229Ala
XM_006717150.3:c.599G>C	XP_006717213.1:p.Gly200Ala
XM_017014849.1:c.656G>C	XP_016870338.1:p.Gly219Ala
XR_001746328.2:n.881G>C
XR_001746329.2:n.833G>C
NM_001698.3:c.656G>C MANE Select	NP_001689.1:p.Gly219Ala
NM_001306190.2:c.569G>C	NP_001293119.1:p.Gly190Ala
NM_001351431.2:c.329G>C	NP_001338360.1:p.Gly110Ala
NM_001351432.2:c.329G>C	NP_001338361.1:p.Gly110Ala
NM_001351433.2:c.329G>C	NP_001338362.1:p.Gly110Ala