Canonical Allele Identifier: CA5119953

Gene: AUH

Linked Data

• ClinVar Variation Id: 1219237
• ClinVar RCV Id: RCV001588326 ; RCV002070456 ; RCV002592499 ; RCV003931237
• dbSNP Id: rs200564356
• ExAC: 9:94124032 G / A
• gnomAD v2: 9-94124032-G-A
• gnomAD v3: 9-91361750-G-A
• gnomAD v4: 9-91361750-G-A
• COSMIC: COSM3699762
• MyVariant Identifiers: chr9:g.94124032G>A (hg19) ; chr9:g.91361750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91361750G>A , CM000671.2:g.91361750G>A	GRCh38
NC_000009.11:g.94124032G>A , CM000671.1:g.94124032G>A	GRCh37
NC_000009.10:g.93163853G>A	NCBI36
NG_008017.1:g.5175C>T , LRG_449:g.5175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.140C>T MANE Select	ENSP00000364883.5:p.Pro47Leu
ENST00000303617.5:c.140C>T	ENSP00000307334.5:p.Pro47Leu
ENST00000375731.8:c.140C>T	ENSP00000364883.4:p.Pro47Leu
ENST00000478465.5:n.138C>T
NM_001306190.1:c.140C>T	NP_001293119.1:p.Pro47Leu
NM_001698.2:c.140C>T , LRG_449t1:c.140C>T	NP_001689.1:p.Pro47Leu
XM_005252066.2:c.140C>T	XP_005252123.1:p.Pro47Leu
XM_005252067.3:c.140C>T	XP_005252124.1:p.Pro47Leu
XM_005252069.3:c.140C>T	XP_005252126.1:p.Pro47Leu
XM_005252072.1:c.140C>T	XP_005252129.1:p.Pro47Leu
XM_006717150.2:c.140C>T	XP_006717213.1:p.Pro47Leu
XM_011518800.1:c.140C>T	XP_011517102.1:p.Pro47Leu
XM_011518803.1:c.140C>T	XP_011517105.1:p.Pro47Leu
XM_011518804.1:c.140C>T	XP_011517106.1:p.Pro47Leu
XR_929814.1:n.190C>T
NM_001351431.1:c.-258C>T	NP_001338360.1:n.-258C>T
NM_001351432.1:c.-350C>T	NP_001338361.1:n.-350C>T
NM_001351433.1:c.-258C>T	NP_001338362.1:n.-258C>T
XM_005252066.3:c.140C>T	XP_005252123.1:p.Pro47Leu
XM_005252067.4:c.140C>T	XP_005252124.1:p.Pro47Leu
XM_005252069.4:c.140C>T	XP_005252126.1:p.Pro47Leu
XM_005252072.2:c.140C>T	XP_005252129.1:p.Pro47Leu
XM_006717150.3:c.140C>T	XP_006717213.1:p.Pro47Leu
XM_011518800.3:c.140C>T	XP_011517102.1:p.Pro47Leu
XM_011518803.2:c.140C>T	XP_011517105.1:p.Pro47Leu
XM_017014849.1:c.140C>T	XP_016870338.1:p.Pro47Leu
XR_001746328.2:n.193C>T
XR_001746329.2:n.175C>T
NM_001698.3:c.140C>T MANE Select	NP_001689.1:p.Pro47Leu
NM_001306190.2:c.140C>T	NP_001293119.1:p.Pro47Leu
NM_001351431.2:c.-258C>T	NP_001338360.1:n.-258C>T
NM_001351432.2:c.-350C>T	NP_001338361.1:n.-350C>T
NM_001351433.2:c.-258C>T	NP_001338362.1:n.-258C>T