Canonical Allele Identifier: CA12434302

Gene: MAS1

Linked Data

• dbSNP Id: rs220733
• gnomAD v2: 6-160318803-A-G
• gnomAD v3: 6-159897771-A-G
• gnomAD v4: 6-159897771-A-G
• MyVariant Identifiers: chr6:g.160318803A>G (hg19) ; chr6:g.159897771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159897771A>G , CM000668.2:g.159897771A>G	GRCh38
NC_000006.11:g.160318803A>G , CM000668.1:g.160318803A>G	GRCh37
NC_000006.10:g.160238793A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000674077.2:c.-243-1415A>G MANE Select	ENSP00000501180.2:n.-243-1415A>G
NM_001366704.1:c.-37+6588A>G	NP_001353633.1:n.-37+6588A>G
NM_002377.3:c.-243-1415A>G	NP_002368.1:n.-243-1415A>G
NM_002377.4:c.-243-1415A>G MANE Select	NP_002368.1:n.-243-1415A>G
NM_001366704.2:c.-37+6588A>G	NP_001353633.1:n.-37+6588A>G