Canonical Allele Identifier: CA354362757
Gene: CASR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257266A>T , CM000665.2:g.122257266A>T GRCh38
NC_000003.11:g.121976113A>T , CM000665.1:g.121976113A>T GRCh37
NC_000003.10:g.123458803A>T NCBI36
NG_009058.1:g.78584A>T
NG_009058.2:g.78599A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.5:c.371A>T ENSP00000418685.1:p.Asn124Ile
ENST00000498619.2:c.371A>T ENSP00000420194.1:p.Asn124Ile
NM_000388.3:c.371A>T NP_000379.2:p.Asn124Ile
NM_001178065.1:c.371A>T NP_001171536.1:p.Asn124Ile
XM_005247836.2:c.371A>T XP_005247893.1:p.Asn124Ile
XM_005247837.2:c.9+2892A>T XP_005247894.1:p.=
XM_006713789.2:c.371A>T XP_006713852.1:p.Asn124Ile
XM_011513237.1:c.371A>T XP_011511539.1:p.Asn124Ile
XM_011513238.1:c.371A>T XP_011511540.1:p.Asn124Ile
XM_006713789.3:c.371A>T XP_006713852.1:p.Asn124Ile
XM_017007324.1:c.371A>T XP_016862813.1:p.Asn124Ile
XM_017007325.1:c.371A>T XP_016862814.1:p.Asn124Ile
NM_000388.4:c.371A>T MANE Select NP_000379.3:p.Asn124Ile
NM_001178065.2:c.371A>T NP_001171536.2:p.Asn124Ile