Canonical Allele Identifier: CA365653785

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1918371
• ClinVar RCV Id: RCV002617248
• MyVariant Identifiers: chr6:g.131905036C>A (hg19) ; chr6:g.131583896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583896C>A , CM000668.2:g.131583896C>A	GRCh38
NC_000006.11:g.131905036C>A , CM000668.1:g.131905036C>A	GRCh37
NC_000006.10:g.131946729C>A	NCBI36
NG_007086.2:g.15672C>A
NG_031860.1:g.49328G>T
NG_031860.2:g.49328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.957C>A (ARG1) MANE Select	ENSP00000357066.3:p.Asn319Lys
ENST00000640973.1:c.699C>A (ARG1)	ENSP00000492623.1:p.Asn233Lys
ENST00000672233.1:c.903C>A (ARG1)	ENSP00000499826.1:p.Asn301Lys
ENST00000673234.1:c.*844C>A (ARG1)	ENSP00000499885.1:n.*844C>A
ENST00000673427.1:c.702C>A (ARG1)	ENSP00000500160.1:p.Asn234Lys
ENST00000354577.8:c.4095+3813G>T (MED23)	ENSP00000346588.4:n.4095+3813G>T
ENST00000356962.2:c.981C>A (ARG1)	ENSP00000349446.2:p.Asn327Lys
ENST00000368087.7:c.957C>A (ARG1)	ENSP00000357066.3:p.Asn319Lys
NM_000045.3:c.957C>A (ARG1)	NP_000036.2:p.Asn319Lys
NM_001244438.1:c.981C>A (ARG1)	NP_001231367.1:p.Asn327Lys
NM_001270521.1:c.4077+3813G>T (MED23)	NP_001257450.1:n.4077+3813G>T
NM_015979.3:c.4095+3813G>T (MED23)	NP_057063.2:n.4095+3813G>T
XM_011535801.1:c.702C>A (ARG1)	XP_011534103.1:p.Asn234Lys
XM_011535801.2:c.702C>A (ARG1)	XP_011534103.1:p.Asn234Lys
NM_000045.4:c.957C>A (ARG1) MANE Select	NP_000036.2:p.Asn319Lys
NM_001244438.2:c.981C>A (ARG1)	NP_001231367.1:p.Asn327Lys
NM_001270521.2:c.4077+3813G>T (MED23)	NP_001257450.1:n.4077+3813G>T
NM_001369020.1:c.702C>A (ARG1)	NP_001355949.1:p.Asn234Lys
NM_015979.4:c.4095+3813G>T (MED23)	NP_057063.2:n.4095+3813G>T
NR_160934.1:n.941C>A (ARG1)