Canonical Allele Identifier: CA365653494

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1972095
• ClinVar RCV Id: RCV002750237
• dbSNP Id: rs1395352972
• gnomAD v3: 6-131583766-T-C
• gnomAD v4: 6-131583766-T-C
• MyVariant Identifiers: chr6:g.131904906T>C (hg19) ; chr6:g.131583766T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583766T>C , CM000668.2:g.131583766T>C	GRCh38
NC_000006.11:g.131904906T>C , CM000668.1:g.131904906T>C	GRCh37
NC_000006.10:g.131946599T>C	NCBI36
NG_007086.2:g.15542T>C
NG_031860.1:g.49458A>G
NG_031860.2:g.49458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.827T>C (ARG1) MANE Select	ENSP00000357066.3:p.Met276Thr
ENST00000640973.1:c.605-36T>C (ARG1)	ENSP00000492623.1:n.605-36T>C
ENST00000672233.1:c.773T>C (ARG1)	ENSP00000499826.1:p.Met258Thr
ENST00000673234.1:c.*714T>C (ARG1)	ENSP00000499885.1:n.*714T>C
ENST00000673427.1:c.572T>C (ARG1)	ENSP00000500160.1:p.Met191Thr
ENST00000354577.8:c.4095+3943A>G (MED23)	ENSP00000346588.4:n.4095+3943A>G
ENST00000356962.2:c.851T>C (ARG1)	ENSP00000349446.2:p.Met284Thr
ENST00000368087.7:c.827T>C (ARG1)	ENSP00000357066.3:p.Met276Thr
NM_000045.3:c.827T>C (ARG1)	NP_000036.2:p.Met276Thr
NM_001244438.1:c.851T>C (ARG1)	NP_001231367.1:p.Met284Thr
NM_001270521.1:c.4077+3943A>G (MED23)	NP_001257450.1:n.4077+3943A>G
NM_015979.3:c.4095+3943A>G (MED23)	NP_057063.2:n.4095+3943A>G
XM_011535801.1:c.572T>C (ARG1)	XP_011534103.1:p.Met191Thr
XM_011535801.2:c.572T>C (ARG1)	XP_011534103.1:p.Met191Thr
NM_000045.4:c.827T>C (ARG1) MANE Select	NP_000036.2:p.Met276Thr
NM_001244438.2:c.851T>C (ARG1)	NP_001231367.1:p.Met284Thr
NM_001270521.2:c.4077+3943A>G (MED23)	NP_001257450.1:n.4077+3943A>G
NM_001369020.1:c.572T>C (ARG1)	NP_001355949.1:p.Met191Thr
NM_015979.4:c.4095+3943A>G (MED23)	NP_057063.2:n.4095+3943A>G
NR_160934.1:n.811T>C (ARG1)