Canonical Allele Identifier: CA195893142

Gene: AUH

Linked Data

• dbSNP Id: rs997680367
• gnomAD v2: 9-93983185-T-G
• gnomAD v3: 9-91220903-T-G
• gnomAD v4: 9-91220903-T-G
• MyVariant Identifiers: chr9:g.93983185T>G (hg19) ; chr9:g.91220903T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220903T>G , CM000671.2:g.91220903T>G	GRCh38
NC_000009.11:g.93983185T>G , CM000671.1:g.93983185T>G	GRCh37
NC_000009.10:g.93023006T>G	NCBI36
NG_008017.1:g.146022A>C , LRG_449:g.146022A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.745A>C MANE Select	ENSP00000364883.5:p.Lys249Gln
ENST00000303617.5:c.658A>C	ENSP00000307334.5:p.Lys220Gln
ENST00000375731.8:c.745A>C	ENSP00000364883.4:p.Lys249Gln
ENST00000473695.1:n.17A>C
NM_001306190.1:c.658A>C	NP_001293119.1:p.Lys220Gln
NM_001698.2:c.745A>C , LRG_449t1:c.745A>C	NP_001689.1:p.Lys249Gln
XM_005252066.2:c.775A>C	XP_005252123.1:p.Lys259Gln
XM_005252067.3:c.775A>C	XP_005252124.1:p.Lys259Gln
XM_005252069.3:c.775A>C	XP_005252126.1:p.Lys259Gln
XM_005252073.2:c.283A>C	XP_005252130.1:p.Lys95Gln
XM_006717150.2:c.688A>C	XP_006717213.1:p.Lys230Gln
XM_011518801.1:c.421A>C	XP_011517103.1:p.Lys141Gln
XM_011518802.1:c.418A>C	XP_011517104.1:p.Lys140Gln
NM_001351431.1:c.418A>C	NP_001338360.1:p.Lys140Gln
NM_001351432.1:c.418A>C	NP_001338361.1:p.Lys140Gln
NM_001351433.1:c.418A>C	NP_001338362.1:p.Lys140Gln
XM_005252066.3:c.775A>C	XP_005252123.1:p.Lys259Gln
XM_005252067.4:c.775A>C	XP_005252124.1:p.Lys259Gln
XM_005252069.4:c.775A>C	XP_005252126.1:p.Lys259Gln
XM_006717150.3:c.688A>C	XP_006717213.1:p.Lys230Gln
XM_017014849.1:c.745A>C	XP_016870338.1:p.Lys249Gln
XR_001746328.2:n.970A>C
XR_001746329.2:n.922A>C
NM_001698.3:c.745A>C MANE Select	NP_001689.1:p.Lys249Gln
NM_001306190.2:c.658A>C	NP_001293119.1:p.Lys220Gln
NM_001351431.2:c.418A>C	NP_001338360.1:p.Lys140Gln
NM_001351432.2:c.418A>C	NP_001338361.1:p.Lys140Gln
NM_001351433.2:c.418A>C	NP_001338362.1:p.Lys140Gln