Canonical Allele Identifier: CA2499218094

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1078995
• ClinVar RCV Id: RCV001394136
• dbSNP Id: rs2114550847
• gnomAD v4: 6-131583732-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583732G>A , CM000668.2:g.131583732G>A	GRCh38
NC_000006.11:g.131904872G>A , CM000668.1:g.131904872G>A	GRCh37
NC_000006.10:g.131946565G>A	NCBI36
NG_007086.2:g.15508G>A
NG_031860.1:g.49492C>T
NG_031860.2:g.49492C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.803-10G>A (ARG1) MANE Select	ENSP00000357066.3:n.803-10G>A
ENST00000640973.1:c.605-70G>A (ARG1)	ENSP00000492623.1:n.605-70G>A
ENST00000672233.1:c.749-10G>A (ARG1)	ENSP00000499826.1:n.749-10G>A
ENST00000673234.1:c.*690-10G>A (ARG1)	ENSP00000499885.1:n.*690-10G>A
ENST00000673427.1:c.548-10G>A (ARG1)	ENSP00000500160.1:n.548-10G>A
ENST00000354577.8:c.4095+3977C>T (MED23)	ENSP00000346588.4:n.4095+3977C>T
ENST00000356962.2:c.827-10G>A (ARG1)	ENSP00000349446.2:n.827-10G>A
ENST00000368087.7:c.803-10G>A (ARG1)	ENSP00000357066.3:n.803-10G>A
NM_000045.3:c.803-10G>A (ARG1)	NP_000036.2:n.803-10G>A
NM_001244438.1:c.827-10G>A (ARG1)	NP_001231367.1:n.827-10G>A
NM_001270521.1:c.4077+3977C>T (MED23)	NP_001257450.1:n.4077+3977C>T
NM_015979.3:c.4095+3977C>T (MED23)	NP_057063.2:n.4095+3977C>T
XM_011535801.1:c.548-10G>A (ARG1)	XP_011534103.1:n.548-10G>A
XM_011535801.2:c.548-10G>A (ARG1)	XP_011534103.1:n.548-10G>A
NM_000045.4:c.803-10G>A (ARG1) MANE Select	NP_000036.2:n.803-10G>A
NM_001244438.2:c.827-10G>A (ARG1)	NP_001231367.1:n.827-10G>A
NM_001270521.2:c.4077+3977C>T (MED23)	NP_001257450.1:n.4077+3977C>T
NM_001369020.1:c.548-10G>A (ARG1)	NP_001355949.1:n.548-10G>A
NM_015979.4:c.4095+3977C>T (MED23)	NP_057063.2:n.4095+3977C>T
NR_160934.1:n.787-10G>A (ARG1)