Canonical Allele Identifier: CA414843302

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869368A>G (hg19) ; chrY:g.19707482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707482A>G , CM000686.2:g.19707482A>G	GRCh38
NC_000024.9:g.21869368A>G , CM000686.1:g.21869368A>G	GRCh37
NC_000024.8:g.20328756A>G	NCBI36
NG_032920.1:g.42458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3664T>C MANE Select	ENSP00000322408.4:p.Trp1222Arg
ENST00000317961.8:c.3664T>C	ENSP00000322408.4:p.Trp1222Arg
ENST00000382806.6:c.3493T>C	ENSP00000372256.2:p.Trp1165Arg
ENST00000415360.1:c.580T>C	ENSP00000389433.1:p.Trp194Arg
ENST00000440077.5:c.3541T>C	ENSP00000398543.1:p.Trp1181Arg
ENST00000469599.6:n.2262T>C
ENST00000492117.1:n.3556T>C
ENST00000541639.5:c.3757T>C	ENSP00000444293.1:p.Trp1253Arg
NM_001146705.1:c.3757T>C	NP_001140177.1:p.Trp1253Arg
NM_001146706.1:c.3493T>C	NP_001140178.1:p.Trp1165Arg
NM_004653.4:c.3664T>C	NP_004644.2:p.Trp1222Arg
XM_005262560.1:c.3529T>C	XP_005262617.1:p.Trp1177Arg
XM_005262561.1:c.3433T>C	XP_005262618.1:p.Trp1145Arg
XM_011531468.1:c.3586T>C	XP_011529770.1:p.Trp1196Arg
XR_244571.2:n.3952T>C
XR_430568.2:n.4286T>C
XM_005262560.3:c.3529T>C	XP_005262617.1:p.Trp1177Arg
XM_005262561.3:c.3433T>C	XP_005262618.1:p.Trp1145Arg
XM_011531468.3:c.3586T>C	XP_011529770.1:p.Trp1196Arg
XM_024452495.1:c.1654T>C	XP_024308263.1:p.Trp552Arg
XM_024452496.1:c.1420T>C	XP_024308264.1:p.Trp474Arg
XR_001756009.2:n.4402T>C
XR_001756010.2:n.4402T>C
XR_001756011.2:n.4267T>C
XR_001756012.2:n.4415T>C
XR_001756013.2:n.3733T>C
XR_002958832.1:n.3834T>C
XR_002958834.1:n.4058T>C
XR_002958835.1:n.3941T>C
XR_002958836.1:n.4624T>C
XR_002958837.1:n.4431T>C
XR_244571.4:n.3951T>C
XR_430568.4:n.4285T>C
NM_001146706.2:c.3493T>C	NP_001140178.1:p.Trp1165Arg
NM_004653.5:c.3664T>C MANE Select	NP_004644.2:p.Trp1222Arg
NM_001146705.2:c.3757T>C	NP_001140177.1:p.Trp1253Arg