Canonical Allele Identifier: CA5101422

Gene: IDNK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.83623196G>C , CM000671.2:g.83623196G>C	GRCh38
NC_000009.11:g.86238111G>C , CM000671.1:g.86238111G>C	GRCh37
NC_000009.10:g.85427931G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001001551.4:c.25G>C MANE Select	NP_001001551.2:p.Val9Leu
ENST00000376419.5:c.25G>C MANE Select	ENSP00000365601.4:p.Val9Leu
NM_001001551.3:c.25G>C	NP_001001551.2:p.Val9Leu
NM_001256915.1:c.-288G>C	NP_001243844.1:n.-288G>C
NM_001256915.2:c.-288G>C	NP_001243844.1:n.-288G>C
NM_001351535.1:c.-186G>C	NP_001338464.1:n.-186G>C
NM_001351535.2:c.-186G>C	NP_001338464.1:n.-186G>C
NR_046421.1:n.148G>C
NR_046421.2:n.54G>C
NR_046422.1:n.148G>C
NR_046422.2:n.54G>C
ENST00000376417.8:c.25G>C	ENSP00000365599.4:p.Val9Leu
ENST00000376419.4:c.25G>C	ENSP00000365601.4:p.Val9Leu
ENST00000405990.3:c.25G>C	ENSP00000385324.2:p.Val9Leu
ENST00000454393.5:c.-288G>C	ENSP00000403290.2:n.-288G>C
ENST00000530832.5:c.-288G>C	ENSP00000436381.1:n.-288G>C
ENST00000533522.1:c.25G>C	ENSP00000434673.1:p.Val9Leu
XM_006717111.4:c.-4210G>C	XP_006717174.1:n.-4210G>C
XM_017014719.1:c.176G>C	XP_016870208.1:p.Gly59Ala
XM_017014720.1:c.176G>C	XP_016870209.1:p.Gly59Ala
XM_017014721.1:c.428G>C	XP_016870210.1:p.Gly143Ala
XM_017014722.1:c.428G>C	XP_016870211.1:p.Gly143Ala