Canonical Allele Identifier: CA414844344

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869854A>G (hg19) ; chrY:g.19707968A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707968A>G , CM000686.2:g.19707968A>G	GRCh38
NC_000024.9:g.21869854A>G , CM000686.1:g.21869854A>G	GRCh37
NC_000024.8:g.20329242A>G	NCBI36
NG_032920.1:g.41972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3365T>C MANE Select	ENSP00000322408.4:p.Leu1122Pro
ENST00000317961.8:c.3365T>C	ENSP00000322408.4:p.Leu1122Pro
ENST00000382806.6:c.3194T>C	ENSP00000372256.2:p.Leu1065Pro
ENST00000415360.1:c.281T>C	ENSP00000389433.1:p.Leu94Pro
ENST00000440077.5:c.3242T>C	ENSP00000398543.1:p.Leu1081Pro
ENST00000469599.6:n.1963T>C
ENST00000492117.1:n.3257T>C
ENST00000541639.5:c.3458T>C	ENSP00000444293.1:p.Leu1153Pro
NM_001146705.1:c.3458T>C	NP_001140177.1:p.Leu1153Pro
NM_001146706.1:c.3194T>C	NP_001140178.1:p.Leu1065Pro
NM_004653.4:c.3365T>C	NP_004644.2:p.Leu1122Pro
XM_005262560.1:c.3230T>C	XP_005262617.1:p.Leu1077Pro
XM_005262561.1:c.3134T>C	XP_005262618.1:p.Leu1045Pro
XM_011531468.1:c.3287T>C	XP_011529770.1:p.Leu1096Pro
XR_244571.2:n.3653T>C
XR_430568.2:n.3987T>C
XM_005262560.3:c.3230T>C	XP_005262617.1:p.Leu1077Pro
XM_005262561.3:c.3134T>C	XP_005262618.1:p.Leu1045Pro
XM_011531468.3:c.3287T>C	XP_011529770.1:p.Leu1096Pro
XM_024452495.1:c.1355T>C	XP_024308263.1:p.Leu452Pro
XM_024452496.1:c.1121T>C	XP_024308264.1:p.Leu374Pro
XR_001756009.2:n.4103T>C
XR_001756010.2:n.4103T>C
XR_001756011.2:n.3968T>C
XR_001756012.2:n.4116T>C
XR_001756013.2:n.3434T>C
XR_002958832.1:n.3535T>C
XR_002958834.1:n.3759T>C
XR_002958835.1:n.3642T>C
XR_002958836.1:n.4325T>C
XR_002958837.1:n.4132T>C
XR_244571.4:n.3652T>C
XR_430568.4:n.3986T>C
NM_001146706.2:c.3194T>C	NP_001140178.1:p.Leu1065Pro
NM_004653.5:c.3365T>C MANE Select	NP_004644.2:p.Leu1122Pro
NM_001146705.2:c.3458T>C	NP_001140177.1:p.Leu1153Pro