Canonical Allele Identifier: CA2690631020

Gene: AUH

Linked Data

• gnomAD v4: 9-91297928-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91297928G>A , CM000671.2:g.91297928G>A	GRCh38
NC_000009.11:g.94060210G>A , CM000671.1:g.94060210G>A	GRCh37
NC_000009.10:g.93100031G>A	NCBI36
NG_008017.1:g.68997C>T , LRG_449:g.68997C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375731.9:c.598+56C>T MANE Select	ENSP00000364883.5:n.598+56C>T
ENST00000303617.5:c.511+56C>T	ENSP00000307334.5:n.511+56C>T
ENST00000375731.8:c.598+56C>T	ENSP00000364883.4:n.598+56C>T
NM_001306190.1:c.511+56C>T	NP_001293119.1:n.511+56C>T
NM_001698.2:c.598+56C>T , LRG_449t1:c.598+56C>T	NP_001689.1:n.598+56C>T
XM_005252066.2:c.628+56C>T	XP_005252123.1:n.628+56C>T
XM_005252067.3:c.628+56C>T	XP_005252124.1:n.628+56C>T
XM_005252069.3:c.628+56C>T	XP_005252126.1:n.628+56C>T
XM_005252072.1:c.598+56C>T	XP_005252129.1:n.598+56C>T
XM_005252073.2:c.136+56C>T	XP_005252130.1:n.136+56C>T
XM_006717150.2:c.541+56C>T	XP_006717213.1:n.541+56C>T
XM_011518800.1:c.628+56C>T	XP_011517102.1:n.628+56C>T
XM_011518801.1:c.274+56C>T	XP_011517103.1:n.274+56C>T
XM_011518802.1:c.271+56C>T	XP_011517104.1:n.271+56C>T
NM_001351431.1:c.271+56C>T	NP_001338360.1:n.271+56C>T
NM_001351432.1:c.271+56C>T	NP_001338361.1:n.271+56C>T
NM_001351433.1:c.271+56C>T	NP_001338362.1:n.271+56C>T
XM_005252066.3:c.628+56C>T	XP_005252123.1:n.628+56C>T
XM_005252067.4:c.628+56C>T	XP_005252124.1:n.628+56C>T
XM_005252069.4:c.628+56C>T	XP_005252126.1:n.628+56C>T
XM_005252072.2:c.598+56C>T	XP_005252129.1:n.598+56C>T
XM_006717150.3:c.541+56C>T	XP_006717213.1:n.541+56C>T
XM_011518800.3:c.628+56C>T	XP_011517102.1:n.628+56C>T
XM_017014849.1:c.598+56C>T	XP_016870338.1:n.598+56C>T
XR_001746328.2:n.681+56C>T
XR_001746329.2:n.633+56C>T
NM_001698.3:c.598+56C>T MANE Select	NP_001689.1:n.598+56C>T
NM_001306190.2:c.511+56C>T	NP_001293119.1:n.511+56C>T
NM_001351431.2:c.271+56C>T	NP_001338360.1:n.271+56C>T
NM_001351432.2:c.271+56C>T	NP_001338361.1:n.271+56C>T
NM_001351433.2:c.271+56C>T	NP_001338362.1:n.271+56C>T