Canonical Allele Identifier: CA933340990

Gene: PLEKHA1

Linked Data

• dbSNP Id: rs2097425111
• gnomAD v3: 10-122432921-T-C
• gnomAD v4: 10-122432921-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122432921T>C , CM000672.2:g.122432921T>C	GRCh38
NC_000010.10:g.124192437T>C , CM000672.1:g.124192437T>C	GRCh37
NC_000010.9:g.124182427T>C	NCBI36
NG_027823.1:g.63344T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368990.7:c.*2983T>C	ENSP00000357986.3:n.*2983T>C
NM_001001974.3:c.*2983T>C	NP_001001974.1:n.*2983T>C
NM_001195608.2:c.*3338T>C	NP_001182537.1:n.*3338T>C
NM_001330178.2:c.*3087T>C	NP_001317107.1:n.*3087T>C
NM_001377230.1:c.*2983T>C	NP_001364159.1:n.*2983T>C
NM_001377231.1:c.*2983T>C	NP_001364160.1:n.*2983T>C
NM_001377232.1:c.*2983T>C	NP_001364161.1:n.*2983T>C
NM_001377234.1:c.*2983T>C	NP_001364163.1:n.*2983T>C
NM_001377235.1:c.*2983T>C	NP_001364164.1:n.*2983T>C
NM_001377237.1:c.*3338T>C	NP_001364166.1:n.*3338T>C
NM_001377238.1:c.*3338T>C	NP_001364167.1:n.*3338T>C
NM_001377240.1:c.*3087T>C	NP_001364169.1:n.*3087T>C
NM_001377241.1:c.*3087T>C	NP_001364170.1:n.*3087T>C
NM_001377242.1:c.*3087T>C	NP_001364171.1:n.*3087T>C
NM_001377243.1:c.*3087T>C	NP_001364172.1:n.*3087T>C
NM_001377244.1:c.*3087T>C	NP_001364173.1:n.*3087T>C
NM_001377245.1:c.*3087T>C	NP_001364174.1:n.*3087T>C
NM_001377246.1:c.*3087T>C	NP_001364175.1:n.*3087T>C
NM_001377247.1:c.*2983T>C	NP_001364176.1:n.*2983T>C
NM_001377248.1:c.*3087T>C	NP_001364177.1:n.*3087T>C
NM_001377249.1:c.*2983T>C	NP_001364178.1:n.*2983T>C
NM_001377250.1:c.*3087T>C	NP_001364179.1:n.*3087T>C
NM_001377251.1:c.*3087T>C	NP_001364180.1:n.*3087T>C
NM_001377252.1:c.*2983T>C	NP_001364181.1:n.*2983T>C
NM_001377253.1:c.*2983T>C	NP_001364182.1:n.*2983T>C
NM_001377254.1:c.*2983T>C	NP_001364183.1:n.*2983T>C
NM_001377255.1:c.*3087T>C	NP_001364184.1:n.*3087T>C
NM_001377256.1:c.*3087T>C	NP_001364185.1:n.*3087T>C
NM_001377257.1:c.*3087T>C	NP_001364186.1:n.*3087T>C
NM_001377258.1:c.*3330T>C	NP_001364187.1:n.*3330T>C
NM_021622.5:c.*2983T>C	NP_067635.2:n.*2983T>C
NR_165160.1:n.4476T>C
NR_165161.1:n.4424T>C
NR_165162.1:n.4289T>C
NR_165164.1:n.4341T>C
NR_165165.1:n.4435T>C