Canonical Allele Identifier: CA2680353567

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583562-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583562C>A , CM000668.2:g.131583562C>A	GRCh38
NC_000006.11:g.131904702C>A , CM000668.1:g.131904702C>A	GRCh37
NC_000006.10:g.131946395C>A	NCBI36
NG_007086.2:g.15338C>A
NG_031860.1:g.49662G>T
NG_031860.2:g.49662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.802+71C>A (ARG1) MANE Select	ENSP00000357066.3:n.802+71C>A
ENST00000640973.1:c.605-240C>A (ARG1)	ENSP00000492623.1:n.605-240C>A
ENST00000672233.1:c.748+71C>A (ARG1)	ENSP00000499826.1:n.748+71C>A
ENST00000673234.1:c.*689+71C>A (ARG1)	ENSP00000499885.1:n.*689+71C>A
ENST00000673427.1:c.547+71C>A (ARG1)	ENSP00000500160.1:n.547+71C>A
ENST00000354577.8:c.4095+4147G>T (MED23)	ENSP00000346588.4:n.4095+4147G>T
ENST00000356962.2:c.826+71C>A (ARG1)	ENSP00000349446.2:n.826+71C>A
ENST00000368087.7:c.802+71C>A (ARG1)	ENSP00000357066.3:n.802+71C>A
NM_000045.3:c.802+71C>A (ARG1)	NP_000036.2:n.802+71C>A
NM_001244438.1:c.826+71C>A (ARG1)	NP_001231367.1:n.826+71C>A
NM_001270521.1:c.4077+4147G>T (MED23)	NP_001257450.1:n.4077+4147G>T
NM_015979.3:c.4095+4147G>T (MED23)	NP_057063.2:n.4095+4147G>T
XM_011535801.1:c.547+71C>A (ARG1)	XP_011534103.1:n.547+71C>A
XM_011535801.2:c.547+71C>A (ARG1)	XP_011534103.1:n.547+71C>A
NM_000045.4:c.802+71C>A (ARG1) MANE Select	NP_000036.2:n.802+71C>A
NM_001244438.2:c.826+71C>A (ARG1)	NP_001231367.1:n.826+71C>A
NM_001270521.2:c.4077+4147G>T (MED23)	NP_001257450.1:n.4077+4147G>T
NM_001369020.1:c.547+71C>A (ARG1)	NP_001355949.1:n.547+71C>A
NM_015979.4:c.4095+4147G>T (MED23)	NP_057063.2:n.4095+4147G>T
NR_160934.1:n.786+71C>A (ARG1)