Canonical Allele Identifier: CA360417328

Gene: RASA1

Linked Data

• gnomAD v4: 5-87268854-C-T
• MyVariant Identifiers: chr5:g.86564671C>T (hg19) ; chr5:g.87268854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268854C>T , CM000667.2:g.87268854C>T	GRCh38
NC_000005.9:g.86564671C>T , CM000667.1:g.86564671C>T	GRCh37
NC_000005.8:g.86600427C>T	NCBI36
NG_011650.1:g.5521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.403C>T MANE Select	ENSP00000274376.6:p.Pro135Ser
ENST00000274376.10:c.403C>T	ENSP00000274376.6:p.Pro135Ser
ENST00000515800.6:c.403C>T	ENSP00000423395.2:p.Pro135Ser
NM_002890.2:c.403C>T	NP_002881.1:p.Pro135Ser
XM_011543525.1:c.403C>T	XP_011541827.1:p.Pro135Ser
XM_011543526.1:c.403C>T	XP_011541828.1:p.Pro135Ser
XM_011543527.1:c.403C>T	XP_011541829.1:p.Pro135Ser
XM_011543525.2:c.403C>T	XP_011541827.1:p.Pro135Ser
XM_011543527.3:c.403C>T	XP_011541829.1:p.Pro135Ser
NM_002890.3:c.403C>T MANE Select	NP_002881.1:p.Pro135Ser