Canonical Allele Identifier: CA414843724

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869482C>G (hg19) ; chrY:g.19707596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707596C>G , CM000686.2:g.19707596C>G	GRCh38
NC_000024.9:g.21869482C>G , CM000686.1:g.21869482C>G	GRCh37
NC_000024.8:g.20328870C>G	NCBI36
NG_032920.1:g.42344G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3550G>C MANE Select	ENSP00000322408.4:p.Val1184Leu
ENST00000317961.8:c.3550G>C	ENSP00000322408.4:p.Val1184Leu
ENST00000382806.6:c.3379G>C	ENSP00000372256.2:p.Val1127Leu
ENST00000415360.1:c.466G>C	ENSP00000389433.1:p.Val156Leu
ENST00000440077.5:c.3427G>C	ENSP00000398543.1:p.Val1143Leu
ENST00000469599.6:n.2148G>C
ENST00000492117.1:n.3442G>C
ENST00000541639.5:c.3643G>C	ENSP00000444293.1:p.Val1215Leu
NM_001146705.1:c.3643G>C	NP_001140177.1:p.Val1215Leu
NM_001146706.1:c.3379G>C	NP_001140178.1:p.Val1127Leu
NM_004653.4:c.3550G>C	NP_004644.2:p.Val1184Leu
XM_005262560.1:c.3415G>C	XP_005262617.1:p.Val1139Leu
XM_005262561.1:c.3319G>C	XP_005262618.1:p.Val1107Leu
XM_011531468.1:c.3472G>C	XP_011529770.1:p.Val1158Leu
XR_244571.2:n.3838G>C
XR_430568.2:n.4172G>C
XM_005262560.3:c.3415G>C	XP_005262617.1:p.Val1139Leu
XM_005262561.3:c.3319G>C	XP_005262618.1:p.Val1107Leu
XM_011531468.3:c.3472G>C	XP_011529770.1:p.Val1158Leu
XM_024452495.1:c.1540G>C	XP_024308263.1:p.Val514Leu
XM_024452496.1:c.1306G>C	XP_024308264.1:p.Val436Leu
XR_001756009.2:n.4288G>C
XR_001756010.2:n.4288G>C
XR_001756011.2:n.4153G>C
XR_001756012.2:n.4301G>C
XR_001756013.2:n.3619G>C
XR_002958832.1:n.3720G>C
XR_002958834.1:n.3944G>C
XR_002958835.1:n.3827G>C
XR_002958836.1:n.4510G>C
XR_002958837.1:n.4317G>C
XR_244571.4:n.3837G>C
XR_430568.4:n.4171G>C
NM_001146706.2:c.3379G>C	NP_001140178.1:p.Val1127Leu
NM_004653.5:c.3550G>C MANE Select	NP_004644.2:p.Val1184Leu
NM_001146705.2:c.3643G>C	NP_001140177.1:p.Val1215Leu