Canonical Allele Identifier: CA3999384

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs769207030
• ExAC: 6:131904903 T / C
• gnomAD v2: 6-131904903-T-C
• gnomAD v3: 6-131583763-T-C
• gnomAD v4: 6-131583763-T-C
• MyVariant Identifiers: chr6:g.131904903T>C (hg19) ; chr6:g.131583763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583763T>C , CM000668.2:g.131583763T>C	GRCh38
NC_000006.11:g.131904903T>C , CM000668.1:g.131904903T>C	GRCh37
NC_000006.10:g.131946596T>C	NCBI36
NG_007086.2:g.15539T>C
NG_031860.1:g.49461A>G
NG_031860.2:g.49461A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.824T>C (ARG1) MANE Select	ENSP00000357066.3:p.Ile275Thr
ENST00000640973.1:c.605-39T>C (ARG1)	ENSP00000492623.1:n.605-39T>C
ENST00000672233.1:c.770T>C (ARG1)	ENSP00000499826.1:p.Ile257Thr
ENST00000673234.1:c.*711T>C (ARG1)	ENSP00000499885.1:n.*711T>C
ENST00000673427.1:c.569T>C (ARG1)	ENSP00000500160.1:p.Ile190Thr
ENST00000354577.8:c.4095+3946A>G (MED23)	ENSP00000346588.4:n.4095+3946A>G
ENST00000356962.2:c.848T>C (ARG1)	ENSP00000349446.2:p.Ile283Thr
ENST00000368087.7:c.824T>C (ARG1)	ENSP00000357066.3:p.Ile275Thr
NM_000045.3:c.824T>C (ARG1)	NP_000036.2:p.Ile275Thr
NM_001244438.1:c.848T>C (ARG1)	NP_001231367.1:p.Ile283Thr
NM_001270521.1:c.4077+3946A>G (MED23)	NP_001257450.1:n.4077+3946A>G
NM_015979.3:c.4095+3946A>G (MED23)	NP_057063.2:n.4095+3946A>G
XM_011535801.1:c.569T>C (ARG1)	XP_011534103.1:p.Ile190Thr
XM_011535801.2:c.569T>C (ARG1)	XP_011534103.1:p.Ile190Thr
NM_000045.4:c.824T>C (ARG1) MANE Select	NP_000036.2:p.Ile275Thr
NM_001244438.2:c.848T>C (ARG1)	NP_001231367.1:p.Ile283Thr
NM_001270521.2:c.4077+3946A>G (MED23)	NP_001257450.1:n.4077+3946A>G
NM_001369020.1:c.569T>C (ARG1)	NP_001355949.1:p.Ile190Thr
NM_015979.4:c.4095+3946A>G (MED23)	NP_057063.2:n.4095+3946A>G
NR_160934.1:n.808T>C (ARG1)