Canonical Allele Identifier: CA354156037

Gene: CASR

Linked Data

• dbSNP Id: rs2074895745
• gnomAD v3: 3-122282084-C-T
• gnomAD v4: 3-122282084-C-T
• MyVariant Identifiers: chr3:g.122000931C>T (hg19) ; chr3:g.122282084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122282084C>T , CM000665.2:g.122282084C>T	GRCh38
NC_000003.11:g.122000931C>T , CM000665.1:g.122000931C>T	GRCh37
NC_000003.10:g.123483621C>T	NCBI36
NG_009058.1:g.103402C>T
NG_009058.2:g.103417C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1378-29C>T	ENSP00000418685.2:n.1378-29C>T
ENST00000498619.4:c.1610C>T	ENSP00000420194.1:p.Pro537Leu
ENST00000638421.1:c.1609-29C>T	ENSP00000492190.1:n.1609-29C>T
ENST00000639785.2:c.1609-29C>T MANE Select	ENSP00000491584.2:n.1609-29C>T
ENST00000490131.5:c.1609-29C>T	ENSP00000418685.1:n.1609-29C>T
ENST00000498619.2:c.1610C>T	ENSP00000420194.1:p.Pro537Leu
NM_000388.3:c.1609-29C>T	NP_000379.2:n.1609-29C>T
NM_001178065.1:c.1610C>T	NP_001171536.1:p.Pro537Leu
XM_005247836.2:c.1609-29C>T	XP_005247893.1:n.1609-29C>T
XM_005247837.2:c.1126-29C>T	XP_005247894.1:n.1126-29C>T
XM_006713789.2:c.1609-29C>T	XP_006713852.1:n.1609-29C>T
XM_011513237.1:c.1609-29C>T	XP_011511539.1:n.1609-29C>T
XM_011513238.1:c.1609-29C>T	XP_011511540.1:n.1609-29C>T
XM_011513239.1:c.1021-29C>T	XP_011511541.1:n.1021-29C>T
XM_006713789.3:c.1609-29C>T	XP_006713852.1:n.1609-29C>T
XM_017007324.1:c.1609-29C>T	XP_016862813.1:n.1609-29C>T
XM_017007325.1:c.1609-29C>T	XP_016862814.1:n.1609-29C>T
NM_000388.4:c.1609-29C>T MANE Select	NP_000379.3:n.1609-29C>T
NM_001178065.2:c.1610C>T	NP_001171536.2:p.Pro537Leu