Canonical Allele Identifier: CA603521744
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs777641012
gnomAD v2: 12-15130896-A-T
gnomAD v4: 12-14977962-A-T
MyVariant Identifiers: chr12:g.15130896A>T (hg19) chr12:g.14977962A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977962A>T , CM000674.2:g.14977962A>T GRCh38
NC_000012.11:g.15130896A>T , CM000674.1:g.15130896A>T GRCh37
NC_000012.10:g.15022163A>T NCBI36
NG_016859.1:g.9941A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-10A>T MANE Select ENSP00000266395.2:n.-41-10A>T
ENST00000266395.2:c.-41-10A>T ENSP00000266395.2:n.-41-10A>T
NM_006205.2:c.-41-10A>T NP_006196.1:n.-41-10A>T
XR_931376.1:n.175+11525T>A
XM_017019431.2:c.-51A>T XP_016874920.1:n.-51A>T
XR_931376.2:n.389+11525T>A
NM_006205.3:c.-41-10A>T MANE Select NP_006196.1:n.-41-10A>T
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