Canonical Allele Identifier: CA16605876

Gene: AUH

Linked Data

• ClinVar Variation Id: 383639
• ClinVar RCV Id: RCV000441567
• dbSNP Id: rs1057521698
• MyVariant Identifiers: chr9:g.93979546T>G (hg19) ; chr9:g.91217264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91217264T>G , CM000671.2:g.91217264T>G	GRCh38
NC_000009.11:g.93979546T>G , CM000671.1:g.93979546T>G	GRCh37
NC_000009.10:g.93019367T>G	NCBI36
NG_008017.1:g.149661A>C , LRG_449:g.149661A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.894+13A>C MANE Select	ENSP00000364883.5:n.894+13A>C
ENST00000303617.5:c.807+13A>C	ENSP00000307334.5:n.807+13A>C
ENST00000375731.8:c.894+13A>C	ENSP00000364883.4:n.894+13A>C
ENST00000473695.1:n.166+13A>C
NM_001306190.1:c.807+13A>C	NP_001293119.1:n.807+13A>C
NM_001698.2:c.894+13A>C , LRG_449t1:c.894+13A>C	NP_001689.1:n.894+13A>C
XM_005252066.2:c.924+13A>C	XP_005252123.1:n.924+13A>C
XM_005252067.3:c.924+13A>C	XP_005252124.1:n.924+13A>C
XM_005252073.2:c.432+13A>C	XP_005252130.1:n.432+13A>C
XM_006717150.2:c.837+13A>C	XP_006717213.1:n.837+13A>C
XM_011518801.1:c.570+13A>C	XP_011517103.1:n.570+13A>C
XM_011518802.1:c.567+13A>C	XP_011517104.1:n.567+13A>C
NM_001351431.1:c.567+13A>C	NP_001338360.1:n.567+13A>C
NM_001351432.1:c.567+13A>C	NP_001338361.1:n.567+13A>C
NM_001351433.1:c.567+13A>C	NP_001338362.1:n.567+13A>C
XM_005252066.3:c.924+13A>C	XP_005252123.1:n.924+13A>C
XM_005252067.4:c.924+13A>C	XP_005252124.1:n.924+13A>C
XM_006717150.3:c.837+13A>C	XP_006717213.1:n.837+13A>C
XM_017014849.1:c.894+13A>C	XP_016870338.1:n.894+13A>C
XR_001746328.2:n.1119+13A>C
XR_001746329.2:n.1071+13A>C
NM_001698.3:c.894+13A>C MANE Select	NP_001689.1:n.894+13A>C
NM_001306190.2:c.807+13A>C	NP_001293119.1:n.807+13A>C
NM_001351431.2:c.567+13A>C	NP_001338360.1:n.567+13A>C
NM_001351432.2:c.567+13A>C	NP_001338361.1:n.567+13A>C
NM_001351433.2:c.567+13A>C	NP_001338362.1:n.567+13A>C