Canonical Allele Identifier: CA2674519055

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87389594-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389594G>C , CM000667.2:g.87389594G>C	GRCh38
NC_000005.9:g.86685411G>C , CM000667.1:g.86685411G>C	GRCh37
NC_000005.8:g.86721167G>C	NCBI36
NG_011650.1:g.126261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.3060+67G>C (RASA1) MANE Select	ENSP00000274376.6:n.3060+67G>C
ENST00000645953.1:c.*90+3176C>G (CCNH)	ENSP00000494460.1:n.*90+3176C>G
ENST00000646883.1:c.254+3176C>G (CCNH)
ENST00000274376.10:c.3060+67G>C (RASA1)	ENSP00000274376.6:n.3060+67G>C
ENST00000456692.6:c.2529+67G>C (RASA1)	ENSP00000411221.2:n.2529+67G>C
ENST00000506290.1:c.2562+67G>C (RASA1)	ENSP00000420905.1:n.2562+67G>C
ENST00000512763.5:c.2559+67G>C (RASA1)	ENSP00000422008.1:n.2559+67G>C
ENST00000515800.6:c.*1675+67G>C (RASA1)	ENSP00000423395.2:n.*1675+67G>C
NM_002890.2:c.3060+67G>C (RASA1)	NP_002881.1:n.3060+67G>C
NM_022650.2:c.2529+67G>C (RASA1)	NP_072179.1:n.2529+67G>C
XM_011543525.1:c.2973+67G>C (RASA1)	XP_011541827.1:n.2973+67G>C
NM_001363539.1:c.*3266C>G (CCNH)	NP_001350468.1:n.*3266C>G
NM_001364075.1:c.933+5450C>G (CCNH)	NP_001351004.1:n.933+5450C>G
NM_001364076.1:c.*3266C>G (CCNH)	NP_001351005.1:n.*3266C>G
NR_157068.1:n.1447+3176C>G (CCNH)
NR_157069.1:n.1040+3176C>G (CCNH)
NR_157070.1:n.1204+3176C>G (CCNH)
NR_157071.1:n.4216C>G (CCNH)
XM_011543525.2:c.2973+67G>C (RASA1)	XP_011541827.1:n.2973+67G>C
NM_001364075.2:c.933+5450C>G (CCNH)	NP_001351004.1:n.933+5450C>G
NM_002890.3:c.3060+67G>C (RASA1) MANE Select	NP_002881.1:n.3060+67G>C
NR_157068.2:n.1447+3176C>G (CCNH)
NR_157069.2:n.1040+3176C>G (CCNH)
NR_157070.2:n.1204+3176C>G (CCNH)
NM_022650.3:c.2529+67G>C (RASA1)	NP_072179.1:n.2529+67G>C