Canonical Allele Identifier: CA365653642

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs1332603898
• gnomAD v3: 6-131583823-C-A
• gnomAD v4: 6-131583823-C-A
• MyVariant Identifiers: chr6:g.131904963C>A (hg19) ; chr6:g.131583823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583823C>A , CM000668.2:g.131583823C>A	GRCh38
NC_000006.11:g.131904963C>A , CM000668.1:g.131904963C>A	GRCh37
NC_000006.10:g.131946656C>A	NCBI36
NG_007086.2:g.15599C>A
NG_031860.1:g.49401G>T
NG_031860.2:g.49401G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.884C>A (ARG1) MANE Select	ENSP00000357066.3:p.Thr295Lys
ENST00000640973.1:c.626C>A (ARG1)	ENSP00000492623.1:p.Thr209Lys
ENST00000672233.1:c.830C>A (ARG1)	ENSP00000499826.1:p.Thr277Lys
ENST00000673234.1:c.*771C>A (ARG1)	ENSP00000499885.1:n.*771C>A
ENST00000673427.1:c.629C>A (ARG1)	ENSP00000500160.1:p.Thr210Lys
ENST00000354577.8:c.4095+3886G>T (MED23)	ENSP00000346588.4:n.4095+3886G>T
ENST00000356962.2:c.908C>A (ARG1)	ENSP00000349446.2:p.Thr303Lys
ENST00000368087.7:c.884C>A (ARG1)	ENSP00000357066.3:p.Thr295Lys
NM_000045.3:c.884C>A (ARG1)	NP_000036.2:p.Thr295Lys
NM_001244438.1:c.908C>A (ARG1)	NP_001231367.1:p.Thr303Lys
NM_001270521.1:c.4077+3886G>T (MED23)	NP_001257450.1:n.4077+3886G>T
NM_015979.3:c.4095+3886G>T (MED23)	NP_057063.2:n.4095+3886G>T
XM_011535801.1:c.629C>A (ARG1)	XP_011534103.1:p.Thr210Lys
XM_011535801.2:c.629C>A (ARG1)	XP_011534103.1:p.Thr210Lys
NM_000045.4:c.884C>A (ARG1) MANE Select	NP_000036.2:p.Thr295Lys
NM_001244438.2:c.908C>A (ARG1)	NP_001231367.1:p.Thr303Lys
NM_001270521.2:c.4077+3886G>T (MED23)	NP_001257450.1:n.4077+3886G>T
NM_001369020.1:c.629C>A (ARG1)	NP_001355949.1:p.Thr210Lys
NM_015979.4:c.4095+3886G>T (MED23)	NP_057063.2:n.4095+3886G>T
NR_160934.1:n.868C>A (ARG1)