Canonical Allele Identifier: CA354153444

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262413G>T , CM000665.2:g.122262413G>T	GRCh38
NC_000003.11:g.121981260G>T , CM000665.1:g.121981260G>T	GRCh37
NC_000003.10:g.123463950G>T	NCBI36
NG_009058.1:g.83731G>T
NG_009058.2:g.83746G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000388.4:c.1377+1G>T MANE Select	NP_000379.3:n.1377+1G>T
ENST00000639785.2:c.1377+1G>T MANE Select	ENSP00000491584.2:n.1377+1G>T
NM_000388.3:c.1377+1G>T	NP_000379.2:n.1377+1G>T
NM_001178065.1:c.1377+1G>T	NP_001171536.1:n.1377+1G>T
NM_001178065.2:c.1377+1G>T	NP_001171536.2:n.1377+1G>T
ENST00000490131.5:c.1377+1G>T	ENSP00000418685.1:n.1377+1G>T
ENST00000490131.7:c.1377+1G>T	ENSP00000418685.2:n.1377+1G>T
ENST00000498619.2:c.1377+1G>T	ENSP00000420194.1:n.1377+1G>T
ENST00000498619.4:c.1377+1G>T	ENSP00000420194.1:n.1377+1G>T
ENST00000638421.1:c.1377+1G>T	ENSP00000492190.1:n.1377+1G>T
XM_005247836.2:c.1377+1G>T	XP_005247893.1:n.1377+1G>T
XM_005247837.2:c.894+1G>T	XP_005247894.1:n.894+1G>T
XM_006713789.2:c.1377+1G>T	XP_006713852.1:n.1377+1G>T
XM_006713789.3:c.1377+1G>T	XP_006713852.1:n.1377+1G>T
XM_011513237.1:c.1377+1G>T	XP_011511539.1:n.1377+1G>T
XM_011513238.1:c.1377+1G>T	XP_011511540.1:n.1377+1G>T
XM_011513239.1:c.789+1G>T	XP_011511541.1:n.789+1G>T
XM_017007324.1:c.1377+1G>T	XP_016862813.1:n.1377+1G>T
XM_017007325.1:c.1377+1G>T	XP_016862814.1:n.1377+1G>T