Canonical Allele Identifier: CA414839954

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867943C>G (hg19) ; chrY:g.19706057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706057C>G , CM000686.2:g.19706057C>G	GRCh38
NC_000024.9:g.21867943C>G , CM000686.1:g.21867943C>G	GRCh37
NC_000024.8:g.20327331C>G	NCBI36
NG_032920.1:g.43883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4558G>C MANE Select	ENSP00000322408.4:p.Ala1520Pro
ENST00000317961.8:c.4558G>C	ENSP00000322408.4:p.Ala1520Pro
ENST00000382806.6:c.4387G>C	ENSP00000372256.2:p.Ala1463Pro
ENST00000469599.6:n.3309G>C
ENST00000492117.1:n.4603G>C
ENST00000541639.5:c.4651G>C	ENSP00000444293.1:p.Ala1551Pro
NM_001146705.1:c.4651G>C	NP_001140177.1:p.Ala1551Pro
NM_001146706.1:c.4387G>C	NP_001140178.1:p.Ala1463Pro
NM_004653.4:c.4558G>C	NP_004644.2:p.Ala1520Pro
XM_005262560.1:c.4423G>C	XP_005262617.1:p.Ala1475Pro
XM_005262561.1:c.4327G>C	XP_005262618.1:p.Ala1443Pro
XM_011531468.1:c.4480G>C	XP_011529770.1:p.Ala1494Pro
XR_430568.2:n.5333G>C
XM_005262560.3:c.4423G>C	XP_005262617.1:p.Ala1475Pro
XM_005262561.3:c.4327G>C	XP_005262618.1:p.Ala1443Pro
XM_011531468.3:c.4480G>C	XP_011529770.1:p.Ala1494Pro
XM_024452495.1:c.2548G>C	XP_024308263.1:p.Ala850Pro
XM_024452496.1:c.2314G>C	XP_024308264.1:p.Ala772Pro
XR_001756009.2:n.5296G>C
XR_001756010.2:n.5264G>C
XR_001756011.2:n.5161G>C
XR_001756012.2:n.5309G>C
XR_001756013.2:n.4627G>C
XR_002958832.1:n.4881G>C
XR_002958834.1:n.4952G>C
XR_002958835.1:n.4835G>C
XR_002958836.1:n.5486G>C
XR_002958837.1:n.5293G>C
XR_244571.4:n.4813G>C
XR_430568.4:n.5332G>C
NM_001146706.2:c.4387G>C	NP_001140178.1:p.Ala1463Pro
NM_004653.5:c.4558G>C MANE Select	NP_004644.2:p.Ala1520Pro
NM_001146705.2:c.4651G>C	NP_001140177.1:p.Ala1551Pro