Canonical Allele Identifier: CA414844378

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869865C>G (hg19) ; chrY:g.19707979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707979C>G , CM000686.2:g.19707979C>G	GRCh38
NC_000024.9:g.21869865C>G , CM000686.1:g.21869865C>G	GRCh37
NC_000024.8:g.20329253C>G	NCBI36
NG_032920.1:g.41961G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3354G>C MANE Select	ENSP00000322408.4:p.Glu1118Asp
ENST00000317961.8:c.3354G>C	ENSP00000322408.4:p.Glu1118Asp
ENST00000382806.6:c.3183G>C	ENSP00000372256.2:p.Glu1061Asp
ENST00000415360.1:c.270G>C	ENSP00000389433.1:p.Glu90Asp
ENST00000440077.5:c.3231G>C	ENSP00000398543.1:p.Glu1077Asp
ENST00000469599.6:n.1952G>C
ENST00000492117.1:n.3246G>C
ENST00000541639.5:c.3447G>C	ENSP00000444293.1:p.Glu1149Asp
NM_001146705.1:c.3447G>C	NP_001140177.1:p.Glu1149Asp
NM_001146706.1:c.3183G>C	NP_001140178.1:p.Glu1061Asp
NM_004653.4:c.3354G>C	NP_004644.2:p.Glu1118Asp
XM_005262560.1:c.3219G>C	XP_005262617.1:p.Glu1073Asp
XM_005262561.1:c.3123G>C	XP_005262618.1:p.Glu1041Asp
XM_011531468.1:c.3276G>C	XP_011529770.1:p.Glu1092Asp
XR_244571.2:n.3642G>C
XR_430568.2:n.3976G>C
XM_005262560.3:c.3219G>C	XP_005262617.1:p.Glu1073Asp
XM_005262561.3:c.3123G>C	XP_005262618.1:p.Glu1041Asp
XM_011531468.3:c.3276G>C	XP_011529770.1:p.Glu1092Asp
XM_024452495.1:c.1344G>C	XP_024308263.1:p.Glu448Asp
XM_024452496.1:c.1110G>C	XP_024308264.1:p.Glu370Asp
XR_001756009.2:n.4092G>C
XR_001756010.2:n.4092G>C
XR_001756011.2:n.3957G>C
XR_001756012.2:n.4105G>C
XR_001756013.2:n.3423G>C
XR_002958832.1:n.3524G>C
XR_002958834.1:n.3748G>C
XR_002958835.1:n.3631G>C
XR_002958836.1:n.4314G>C
XR_002958837.1:n.4121G>C
XR_244571.4:n.3641G>C
XR_430568.4:n.3975G>C
NM_001146706.2:c.3183G>C	NP_001140178.1:p.Glu1061Asp
NM_004653.5:c.3354G>C MANE Select	NP_004644.2:p.Glu1118Asp
NM_001146705.2:c.3447G>C	NP_001140177.1:p.Glu1149Asp