Canonical Allele Identifier: CA3999392

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 859241
• ClinVar RCV Id: RCV001065307
• dbSNP Id: rs370022660
• ExAC: 6:131904935 C / A
• gnomAD v2: 6-131904935-C-A
• gnomAD v3: 6-131583795-C-A
• gnomAD v4: 6-131583795-C-A
• MyVariant Identifiers: chr6:g.131904935C>A (hg19) ; chr6:g.131583795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583795C>A , CM000668.2:g.131583795C>A	GRCh38
NC_000006.11:g.131904935C>A , CM000668.1:g.131904935C>A	GRCh37
NC_000006.10:g.131946628C>A	NCBI36
NG_007086.2:g.15571C>A
NG_031860.1:g.49429G>T
NG_031860.2:g.49429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.856C>A (ARG1) MANE Select	ENSP00000357066.3:p.Pro286Thr
ENST00000640973.1:c.605-7C>A (ARG1)	ENSP00000492623.1:n.605-7C>A
ENST00000672233.1:c.802C>A (ARG1)	ENSP00000499826.1:p.Pro268Thr
ENST00000673234.1:c.*743C>A (ARG1)	ENSP00000499885.1:n.*743C>A
ENST00000673427.1:c.601C>A (ARG1)	ENSP00000500160.1:p.Pro201Thr
ENST00000354577.8:c.4095+3914G>T (MED23)	ENSP00000346588.4:n.4095+3914G>T
ENST00000356962.2:c.880C>A (ARG1)	ENSP00000349446.2:p.Pro294Thr
ENST00000368087.7:c.856C>A (ARG1)	ENSP00000357066.3:p.Pro286Thr
NM_000045.3:c.856C>A (ARG1)	NP_000036.2:p.Pro286Thr
NM_001244438.1:c.880C>A (ARG1)	NP_001231367.1:p.Pro294Thr
NM_001270521.1:c.4077+3914G>T (MED23)	NP_001257450.1:n.4077+3914G>T
NM_015979.3:c.4095+3914G>T (MED23)	NP_057063.2:n.4095+3914G>T
XM_011535801.1:c.601C>A (ARG1)	XP_011534103.1:p.Pro201Thr
XM_011535801.2:c.601C>A (ARG1)	XP_011534103.1:p.Pro201Thr
NM_000045.4:c.856C>A (ARG1) MANE Select	NP_000036.2:p.Pro286Thr
NM_001244438.2:c.880C>A (ARG1)	NP_001231367.1:p.Pro294Thr
NM_001270521.2:c.4077+3914G>T (MED23)	NP_001257450.1:n.4077+3914G>T
NM_001369020.1:c.601C>A (ARG1)	NP_001355949.1:p.Pro201Thr
NM_015979.4:c.4095+3914G>T (MED23)	NP_057063.2:n.4095+3914G>T
NR_160934.1:n.840C>A (ARG1)