Canonical Allele Identifier: CA373836654

Gene: AUH

Linked Data

• gnomAD v4: 9-91361802-G-T
• MyVariant Identifiers: chr9:g.94124084G>T (hg19) ; chr9:g.91361802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91361802G>T , CM000671.2:g.91361802G>T	GRCh38
NC_000009.11:g.94124084G>T , CM000671.1:g.94124084G>T	GRCh37
NC_000009.10:g.93163905G>T	NCBI36
NG_008017.1:g.5123C>A , LRG_449:g.5123C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.88C>A MANE Select	ENSP00000364883.5:p.Leu30Ile
ENST00000303617.5:c.88C>A	ENSP00000307334.5:p.Leu30Ile
ENST00000375731.8:c.88C>A	ENSP00000364883.4:p.Leu30Ile
ENST00000478465.5:n.86C>A
NM_001306190.1:c.88C>A	NP_001293119.1:p.Leu30Ile
NM_001698.2:c.88C>A , LRG_449t1:c.88C>A	NP_001689.1:p.Leu30Ile
XM_005252066.2:c.88C>A	XP_005252123.1:p.Leu30Ile
XM_005252067.3:c.88C>A	XP_005252124.1:p.Leu30Ile
XM_005252069.3:c.88C>A	XP_005252126.1:p.Leu30Ile
XM_005252072.1:c.88C>A	XP_005252129.1:p.Leu30Ile
XM_006717150.2:c.88C>A	XP_006717213.1:p.Leu30Ile
XM_011518800.1:c.88C>A	XP_011517102.1:p.Leu30Ile
XM_011518803.1:c.88C>A	XP_011517105.1:p.Leu30Ile
XM_011518804.1:c.88C>A	XP_011517106.1:p.Leu30Ile
XR_929814.1:n.138C>A
NM_001351431.1:c.-310C>A	NP_001338360.1:n.-310C>A
NM_001351432.1:c.-402C>A	NP_001338361.1:n.-402C>A
NM_001351433.1:c.-310C>A	NP_001338362.1:n.-310C>A
XM_005252066.3:c.88C>A	XP_005252123.1:p.Leu30Ile
XM_005252067.4:c.88C>A	XP_005252124.1:p.Leu30Ile
XM_005252069.4:c.88C>A	XP_005252126.1:p.Leu30Ile
XM_005252072.2:c.88C>A	XP_005252129.1:p.Leu30Ile
XM_006717150.3:c.88C>A	XP_006717213.1:p.Leu30Ile
XM_011518800.3:c.88C>A	XP_011517102.1:p.Leu30Ile
XM_011518803.2:c.88C>A	XP_011517105.1:p.Leu30Ile
XM_017014849.1:c.88C>A	XP_016870338.1:p.Leu30Ile
XR_001746328.2:n.141C>A
XR_001746329.2:n.123C>A
NM_001698.3:c.88C>A MANE Select	NP_001689.1:p.Leu30Ile
NM_001306190.2:c.88C>A	NP_001293119.1:p.Leu30Ile
NM_001351431.2:c.-310C>A	NP_001338360.1:n.-310C>A
NM_001351432.2:c.-402C>A	NP_001338361.1:n.-402C>A
NM_001351433.2:c.-310C>A	NP_001338362.1:n.-310C>A