Canonical Allele Identifier: CA445184054

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87331378-A-C
• MyVariant Identifiers: chr5:g.86627195A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331378A>C , CM000667.2:g.87331378A>C	GRCh38
NC_000005.9:g.86627195A>C , CM000667.1:g.86627195A>C	GRCh37
NC_000005.8:g.86662951A>C	NCBI36
NG_011650.1:g.68045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.570A>C (RASA1) MANE Select	ENSP00000274376.6:p.Ile190=
ENST00000645953.1:c.*91-12481T>G (CCNH)	ENSP00000494460.1:n.*91-12481T>G
ENST00000274376.10:c.570A>C (RASA1)	ENSP00000274376.6:p.Ile190=
ENST00000456692.6:c.39A>C (RASA1)	ENSP00000411221.2:p.Ile13=
ENST00000506290.1:c.72A>C (RASA1)	ENSP00000420905.1:p.Ile24=
ENST00000512763.5:c.69A>C (RASA1)	ENSP00000422008.1:p.Ile23=
ENST00000515800.6:c.570A>C (RASA1)	ENSP00000423395.2:p.Ile190=
NM_002890.2:c.570A>C (RASA1)	NP_002881.1:p.Ile190=
NM_022650.2:c.39A>C (RASA1)	NP_072179.1:p.Ile13=
XM_011543525.1:c.570A>C (RASA1)	XP_011541827.1:p.Ile190=
XM_011543526.1:c.570A>C (RASA1)	XP_011541828.1:p.Ile190=
XM_011543527.1:c.570A>C (RASA1)	XP_011541829.1:p.Ile190=
NM_001364075.1:c.934-18583T>G (CCNH)	NP_001351004.1:n.934-18583T>G
NR_157068.1:n.1448-18583T>G (CCNH)
NR_157069.1:n.1041-18583T>G (CCNH)
NR_157070.1:n.1205-18583T>G (CCNH)
XM_011543525.2:c.570A>C (RASA1)	XP_011541827.1:p.Ile190=
XM_011543527.3:c.570A>C (RASA1)	XP_011541829.1:p.Ile190=
NM_001364075.2:c.934-18583T>G (CCNH)	NP_001351004.1:n.934-18583T>G
NM_002890.3:c.570A>C (RASA1) MANE Select	NP_002881.1:p.Ile190=
NR_157068.2:n.1448-18583T>G (CCNH)
NR_157069.2:n.1041-18583T>G (CCNH)
NR_157070.2:n.1205-18583T>G (CCNH)
NM_022650.3:c.39A>C (RASA1)	NP_072179.1:p.Ile13=