Canonical Allele Identifier: CA560884057

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1481555761
• gnomAD v2: 5-86685160-A-C
• gnomAD v4: 5-87389343-A-C
• MyVariant Identifiers: chr5:g.86685160A>C (hg19) ; chr5:g.87389343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389343A>C , CM000667.2:g.87389343A>C	GRCh38
NC_000005.9:g.86685160A>C , CM000667.1:g.86685160A>C	GRCh37
NC_000005.8:g.86720916A>C	NCBI36
NG_011650.1:g.126010A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2926-50A>C (RASA1) MANE Select	ENSP00000274376.6:n.2926-50A>C
ENST00000645953.1:c.*90+3427T>G (CCNH)	ENSP00000494460.1:n.*90+3427T>G
ENST00000646883.1:c.254+3427T>G (CCNH)
ENST00000274376.10:c.2926-50A>C (RASA1)	ENSP00000274376.6:n.2926-50A>C
ENST00000456692.6:c.2395-50A>C (RASA1)	ENSP00000411221.2:n.2395-50A>C
ENST00000506290.1:c.2428-50A>C (RASA1)	ENSP00000420905.1:n.2428-50A>C
ENST00000512763.5:c.2425-50A>C (RASA1)	ENSP00000422008.1:n.2425-50A>C
ENST00000515800.6:c.*1491A>C (RASA1)	ENSP00000423395.2:n.*1491A>C
NM_002890.2:c.2926-50A>C (RASA1)	NP_002881.1:n.2926-50A>C
NM_022650.2:c.2395-50A>C (RASA1)	NP_072179.1:n.2395-50A>C
XM_011543525.1:c.2839-50A>C (RASA1)	XP_011541827.1:n.2839-50A>C
NM_001364075.1:c.933+5701T>G (CCNH)	NP_001351004.1:n.933+5701T>G
NR_157068.1:n.1447+3427T>G (CCNH)
NR_157069.1:n.1040+3427T>G (CCNH)
NR_157070.1:n.1204+3427T>G (CCNH)
XM_011543525.2:c.2839-50A>C (RASA1)	XP_011541827.1:n.2839-50A>C
NM_001364075.2:c.933+5701T>G (CCNH)	NP_001351004.1:n.933+5701T>G
NM_002890.3:c.2926-50A>C (RASA1) MANE Select	NP_002881.1:n.2926-50A>C
NR_157068.2:n.1447+3427T>G (CCNH)
NR_157069.2:n.1040+3427T>G (CCNH)
NR_157070.2:n.1204+3427T>G (CCNH)
NM_022650.3:c.2395-50A>C (RASA1)	NP_072179.1:n.2395-50A>C