Canonical Allele Identifier: CA445197005

Gene: RASA1 CCNH

Linked Data

• gnomAD v3: 5-87363400-C-A
• gnomAD v4: 5-87363400-C-A
• MyVariant Identifiers: chr5:g.86659217C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87363400C>A , CM000667.2:g.87363400C>A	GRCh38
NC_000005.9:g.86659217C>A , CM000667.1:g.86659217C>A	GRCh37
NC_000005.8:g.86694973C>A	NCBI36
NG_011650.1:g.100067C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.1506C>A (RASA1) MANE Select	ENSP00000274376.6:p.Ala502=
ENST00000645953.1:c.*90+29370G>T (CCNH)	ENSP00000494460.1:n.*90+29370G>T
ENST00000274376.10:c.1506C>A (RASA1)	ENSP00000274376.6:p.Ala502=
ENST00000456692.6:c.975C>A (RASA1)	ENSP00000411221.2:p.Ala325=
ENST00000506290.1:c.1008C>A (RASA1)	ENSP00000420905.1:p.Ala336=
ENST00000509953.1:n.609C>A (RASA1)
ENST00000512763.5:c.1005C>A (RASA1)	ENSP00000422008.1:p.Ala335=
ENST00000515800.6:c.1506C>A (RASA1)	ENSP00000423395.2:p.Ala502=
NM_002890.2:c.1506C>A (RASA1)	NP_002881.1:p.Ala502=
NM_022650.2:c.975C>A (RASA1)	NP_072179.1:p.Ala325=
XM_011543525.1:c.1506C>A (RASA1)	XP_011541827.1:p.Ala502=
XM_011543526.1:c.1506C>A (RASA1)	XP_011541828.1:p.Ala502=
XM_011543527.1:c.1506C>A (RASA1)	XP_011541829.1:p.Ala502=
NM_001364075.1:c.933+31644G>T (CCNH)	NP_001351004.1:n.933+31644G>T
NR_157068.1:n.1447+29370G>T (CCNH)
NR_157069.1:n.1040+29370G>T (CCNH)
NR_157070.1:n.1204+29370G>T (CCNH)
XM_011543525.2:c.1506C>A (RASA1)	XP_011541827.1:p.Ala502=
XM_011543527.3:c.1506C>A (RASA1)	XP_011541829.1:p.Ala502=
NM_001364075.2:c.933+31644G>T (CCNH)	NP_001351004.1:n.933+31644G>T
NM_002890.3:c.1506C>A (RASA1) MANE Select	NP_002881.1:p.Ala502=
NR_157068.2:n.1447+29370G>T (CCNH)
NR_157069.2:n.1040+29370G>T (CCNH)
NR_157070.2:n.1204+29370G>T (CCNH)
NM_022650.3:c.975C>A (RASA1)	NP_072179.1:p.Ala325=