Canonical Allele Identifier: CA360375771

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1761213539
• MyVariant Identifiers: chr5:g.86670658G>C (hg19) ; chr5:g.87374841G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87374841G>C , CM000667.2:g.87374841G>C	GRCh38
NC_000005.9:g.86670658G>C , CM000667.1:g.86670658G>C	GRCh37
NC_000005.8:g.86706414G>C	NCBI36
NG_011650.1:g.111508G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.1936G>C (RASA1) MANE Select	ENSP00000274376.6:p.Asp646His
ENST00000645953.1:c.*90+17929C>G (CCNH)	ENSP00000494460.1:n.*90+17929C>G
ENST00000274376.10:c.1936G>C (RASA1)	ENSP00000274376.6:p.Asp646His
ENST00000456692.6:c.1405G>C (RASA1)	ENSP00000411221.2:p.Asp469His
ENST00000506290.1:c.1438G>C (RASA1)	ENSP00000420905.1:p.Asp480His
ENST00000512763.5:c.1435G>C (RASA1)	ENSP00000422008.1:p.Asp479His
ENST00000515800.6:c.*461G>C (RASA1)	ENSP00000423395.2:n.*461G>C
NM_002890.2:c.1936G>C (RASA1)	NP_002881.1:p.Asp646His
NM_022650.2:c.1405G>C (RASA1)	NP_072179.1:p.Asp469His
XM_011543525.1:c.1936G>C (RASA1)	XP_011541827.1:p.Asp646His
XM_011543526.1:c.1936G>C (RASA1)	XP_011541828.1:p.Asp646His
XR_948544.1:n.742+804C>G
NM_001364075.1:c.933+20203C>G (CCNH)	NP_001351004.1:n.933+20203C>G
NR_157068.1:n.1447+17929C>G (CCNH)
NR_157069.1:n.1040+17929C>G (CCNH)
NR_157070.1:n.1204+17929C>G (CCNH)
XM_011543525.2:c.1936G>C (RASA1)	XP_011541827.1:p.Asp646His
NM_001364075.2:c.933+20203C>G (CCNH)	NP_001351004.1:n.933+20203C>G
NM_002890.3:c.1936G>C (RASA1) MANE Select	NP_002881.1:p.Asp646His
NR_157068.2:n.1447+17929C>G (CCNH)
NR_157069.2:n.1040+17929C>G (CCNH)
NR_157070.2:n.1204+17929C>G (CCNH)
NM_022650.3:c.1405G>C (RASA1)	NP_072179.1:p.Asp469His