Canonical Allele Identifier: CA373835240

Gene: AUH

Linked Data

• MyVariant Identifiers: chr9:g.93983203G>A (hg19) ; chr9:g.91220921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220921G>A , CM000671.2:g.91220921G>A	GRCh38
NC_000009.11:g.93983203G>A , CM000671.1:g.93983203G>A	GRCh37
NC_000009.10:g.93023024G>A	NCBI36
NG_008017.1:g.146004C>T , LRG_449:g.146004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.727C>T MANE Select	ENSP00000364883.5:p.Leu243Phe
ENST00000303617.5:c.640C>T	ENSP00000307334.5:p.Leu214Phe
ENST00000375731.8:c.727C>T	ENSP00000364883.4:p.Leu243Phe
NM_001306190.1:c.640C>T	NP_001293119.1:p.Leu214Phe
NM_001698.2:c.727C>T , LRG_449t1:c.727C>T	NP_001689.1:p.Leu243Phe
XM_005252066.2:c.757C>T	XP_005252123.1:p.Leu253Phe
XM_005252067.3:c.757C>T	XP_005252124.1:p.Leu253Phe
XM_005252069.3:c.757C>T	XP_005252126.1:p.Leu253Phe
XM_005252073.2:c.265C>T	XP_005252130.1:p.Leu89Phe
XM_006717150.2:c.670C>T	XP_006717213.1:p.Leu224Phe
XM_011518801.1:c.403C>T	XP_011517103.1:p.Leu135Phe
XM_011518802.1:c.400C>T	XP_011517104.1:p.Leu134Phe
NM_001351431.1:c.400C>T	NP_001338360.1:p.Leu134Phe
NM_001351432.1:c.400C>T	NP_001338361.1:p.Leu134Phe
NM_001351433.1:c.400C>T	NP_001338362.1:p.Leu134Phe
XM_005252066.3:c.757C>T	XP_005252123.1:p.Leu253Phe
XM_005252067.4:c.757C>T	XP_005252124.1:p.Leu253Phe
XM_005252069.4:c.757C>T	XP_005252126.1:p.Leu253Phe
XM_006717150.3:c.670C>T	XP_006717213.1:p.Leu224Phe
XM_017014849.1:c.727C>T	XP_016870338.1:p.Leu243Phe
XR_001746328.2:n.952C>T
XR_001746329.2:n.904C>T
NM_001698.3:c.727C>T MANE Select	NP_001689.1:p.Leu243Phe
NM_001306190.2:c.640C>T	NP_001293119.1:p.Leu214Phe
NM_001351431.2:c.400C>T	NP_001338360.1:p.Leu134Phe
NM_001351432.2:c.400C>T	NP_001338361.1:p.Leu134Phe
NM_001351433.2:c.400C>T	NP_001338362.1:p.Leu134Phe