Canonical Allele Identifier: CA1381076

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211479256T>A , CM000663.2:g.211479256T>A	GRCh38
NC_000001.10:g.211652598T>A , CM000663.1:g.211652598T>A	GRCh37
NC_000001.9:g.209719221T>A	NCBI36
NG_013042.1:g.18662A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.368A>T MANE Select	NP_001158160.1:p.Gln123Leu
ENST00000680073.1:c.368A>T MANE Select	ENSP00000505312.1:p.Gln123Leu
NM_001164688.1:c.368A>T	NP_001158160.1:p.Gln123Leu
NM_183059.2:c.368A>T	NP_898882.1:p.Gln123Leu
NM_183059.3:c.368A>T	NP_898882.1:p.Gln123Leu
ENST00000367002.4:c.368A>T	ENSP00000355969.4:p.Gln123Leu
ENST00000367002.5:c.368A>T	ENSP00000355969.4:p.Gln123Leu
ENST00000484910.1:n.336A>T
XM_011509479.1:c.368A>T	XP_011507781.1:p.Gln123Leu
XM_017001151.1:c.404A>T	XP_016856640.1:p.Gln135Leu