Canonical Allele Identifier: CA368214567
Gene: CALCR HGNC NCBI

Linked Data

gnomAD v4: 7-93426496-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93426496C>T , CM000669.2:g.93426496C>T GRCh38
NC_000007.13:g.93055808C>T , CM000669.1:g.93055808C>T GRCh37
NC_000007.12:g.92893744C>T NCBI36
NG_013005.1:g.153235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426151.7:c.1285G>A MANE Select ENSP00000389295.1:p.Ala429Thr
ENST00000649521.1:c.1333G>A ENSP00000497687.1:p.Ala445Thr
ENST00000359558.6:c.1387G>A ENSP00000352561.2:p.Ala463Thr
ENST00000360249.8:c.*795G>A ENSP00000353385.5:n.*795G>A
ENST00000394441.5:c.1285G>A ENSP00000377959.1:p.Ala429Thr
ENST00000415529.2:c.1335G>A ENSP00000413179.1:n.1335G>A
ENST00000421592.5:c.1333G>A ENSP00000399552.1:p.Ala445Thr
ENST00000423724.5:c.1383G>A ENSP00000391369.1:n.1383G>A
ENST00000426151.5:c.1285G>A ENSP00000389295.1:p.Ala429Thr
NM_001164737.1:c.1387G>A NP_001158209.1:p.Ala463Thr
NM_001164738.1:c.1285G>A NP_001158210.1:p.Ala429Thr
NM_001742.3:c.1285G>A NP_001733.1:p.Ala429Thr
NM_001164737.2:c.1333G>A NP_001158209.2:p.Ala445Thr
NM_001742.4:c.1285G>A MANE Select NP_001733.1:p.Ala429Thr
NM_001164737.3:c.1333G>A NP_001158209.2:p.Ala445Thr
NM_001164738.2:c.1285G>A NP_001158210.1:p.Ala429Thr