Canonical Allele Identifier: CA414843588

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869449A>G (hg19) ; chrY:g.19707563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707563A>G , CM000686.2:g.19707563A>G	GRCh38
NC_000024.9:g.21869449A>G , CM000686.1:g.21869449A>G	GRCh37
NC_000024.8:g.20328837A>G	NCBI36
NG_032920.1:g.42377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3583T>C MANE Select	ENSP00000322408.4:p.Trp1195Arg
ENST00000317961.8:c.3583T>C	ENSP00000322408.4:p.Trp1195Arg
ENST00000382806.6:c.3412T>C	ENSP00000372256.2:p.Trp1138Arg
ENST00000415360.1:c.499T>C	ENSP00000389433.1:p.Trp167Arg
ENST00000440077.5:c.3460T>C	ENSP00000398543.1:p.Trp1154Arg
ENST00000469599.6:n.2181T>C
ENST00000492117.1:n.3475T>C
ENST00000541639.5:c.3676T>C	ENSP00000444293.1:p.Trp1226Arg
NM_001146705.1:c.3676T>C	NP_001140177.1:p.Trp1226Arg
NM_001146706.1:c.3412T>C	NP_001140178.1:p.Trp1138Arg
NM_004653.4:c.3583T>C	NP_004644.2:p.Trp1195Arg
XM_005262560.1:c.3448T>C	XP_005262617.1:p.Trp1150Arg
XM_005262561.1:c.3352T>C	XP_005262618.1:p.Trp1118Arg
XM_011531468.1:c.3505T>C	XP_011529770.1:p.Trp1169Arg
XR_244571.2:n.3871T>C
XR_430568.2:n.4205T>C
XM_005262560.3:c.3448T>C	XP_005262617.1:p.Trp1150Arg
XM_005262561.3:c.3352T>C	XP_005262618.1:p.Trp1118Arg
XM_011531468.3:c.3505T>C	XP_011529770.1:p.Trp1169Arg
XM_024452495.1:c.1573T>C	XP_024308263.1:p.Trp525Arg
XM_024452496.1:c.1339T>C	XP_024308264.1:p.Trp447Arg
XR_001756009.2:n.4321T>C
XR_001756010.2:n.4321T>C
XR_001756011.2:n.4186T>C
XR_001756012.2:n.4334T>C
XR_001756013.2:n.3652T>C
XR_002958832.1:n.3753T>C
XR_002958834.1:n.3977T>C
XR_002958835.1:n.3860T>C
XR_002958836.1:n.4543T>C
XR_002958837.1:n.4350T>C
XR_244571.4:n.3870T>C
XR_430568.4:n.4204T>C
NM_001146706.2:c.3412T>C	NP_001140178.1:p.Trp1138Arg
NM_004653.5:c.3583T>C MANE Select	NP_004644.2:p.Trp1195Arg
NM_001146705.2:c.3676T>C	NP_001140177.1:p.Trp1226Arg