Canonical Allele Identifier: CA5119753

Gene: AUH

Linked Data

• dbSNP Id: rs761519675
• ExAC: 9:93983237 G / A
• gnomAD v2: 9-93983237-G-A
• gnomAD v4: 9-91220955-G-A
• MyVariant Identifiers: chr9:g.93983237G>A (hg19) ; chr9:g.91220955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220955G>A , CM000671.2:g.91220955G>A	GRCh38
NC_000009.11:g.93983237G>A , CM000671.1:g.93983237G>A	GRCh37
NC_000009.10:g.93023058G>A	NCBI36
NG_008017.1:g.145970C>T , LRG_449:g.145970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.693C>T MANE Select	ENSP00000364883.5:p.Ser231=
ENST00000303617.5:c.606C>T	ENSP00000307334.5:p.Ser202=
ENST00000375731.8:c.693C>T	ENSP00000364883.4:p.Ser231=
NM_001306190.1:c.606C>T	NP_001293119.1:p.Ser202=
NM_001698.2:c.693C>T , LRG_449t1:c.693C>T	NP_001689.1:p.Ser231=
XM_005252066.2:c.723C>T	XP_005252123.1:p.Ser241=
XM_005252067.3:c.723C>T	XP_005252124.1:p.Ser241=
XM_005252069.3:c.723C>T	XP_005252126.1:p.Ser241=
XM_005252073.2:c.231C>T	XP_005252130.1:p.Ser77=
XM_006717150.2:c.636C>T	XP_006717213.1:p.Ser212=
XM_011518801.1:c.369C>T	XP_011517103.1:p.Ser123=
XM_011518802.1:c.366C>T	XP_011517104.1:p.Ser122=
NM_001351431.1:c.366C>T	NP_001338360.1:p.Ser122=
NM_001351432.1:c.366C>T	NP_001338361.1:p.Ser122=
NM_001351433.1:c.366C>T	NP_001338362.1:p.Ser122=
XM_005252066.3:c.723C>T	XP_005252123.1:p.Ser241=
XM_005252067.4:c.723C>T	XP_005252124.1:p.Ser241=
XM_005252069.4:c.723C>T	XP_005252126.1:p.Ser241=
XM_006717150.3:c.636C>T	XP_006717213.1:p.Ser212=
XM_017014849.1:c.693C>T	XP_016870338.1:p.Ser231=
XR_001746328.2:n.918C>T
XR_001746329.2:n.870C>T
NM_001698.3:c.693C>T MANE Select	NP_001689.1:p.Ser231=
NM_001306190.2:c.606C>T	NP_001293119.1:p.Ser202=
NM_001351431.2:c.366C>T	NP_001338360.1:p.Ser122=
NM_001351432.2:c.366C>T	NP_001338361.1:p.Ser122=
NM_001351433.2:c.366C>T	NP_001338362.1:p.Ser122=