Canonical Allele Identifier: CA1643035

Gene: SRBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.45546807G>A , CM000664.2:g.45546807G>A	GRCh38
NC_000002.11:g.45773946G>A , CM000664.1:g.45773946G>A	GRCh37
NC_000002.10:g.45627450G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018079.5:c.1799C>T MANE Select	NP_060549.4:p.Ala600Val
ENST00000263736.5:c.1799C>T MANE Select	ENSP00000263736.4:p.Ala600Val
NM_018079.4:c.1799C>T	NP_060549.4:p.Ala600Val
ENST00000263736.4:c.1799C>T	ENSP00000263736.4:p.Ala600Val
ENST00000475073.5:n.206C>T
ENST00000493649.1:n.580C>T
XM_005264398.3:c.1799C>T	XP_005264455.2:p.Ala600Val
XM_011532946.1:c.1799C>T	XP_011531248.1:p.Ala600Val
XM_011532946.2:c.1799C>T	XP_011531248.1:p.Ala600Val
XM_017004418.1:c.356C>T	XP_016859907.1:p.Ala119Val
XR_001738804.2:n.1875C>T
XR_001738805.2:n.1875C>T
XR_001738806.2:n.1875C>T
XR_002959310.1:n.1875C>T
XR_426987.1:n.1876C>T
XR_939693.1:n.1876C>T
XR_939693.3:n.1875C>T