Canonical Allele Identifier: CA414843494

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869425C>G (hg19) ; chrY:g.19707539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707539C>G , CM000686.2:g.19707539C>G	GRCh38
NC_000024.9:g.21869425C>G , CM000686.1:g.21869425C>G	GRCh37
NC_000024.8:g.20328813C>G	NCBI36
NG_032920.1:g.42401G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3607G>C MANE Select	ENSP00000322408.4:p.Val1203Leu
ENST00000317961.8:c.3607G>C	ENSP00000322408.4:p.Val1203Leu
ENST00000382806.6:c.3436G>C	ENSP00000372256.2:p.Val1146Leu
ENST00000415360.1:c.523G>C	ENSP00000389433.1:p.Val175Leu
ENST00000440077.5:c.3484G>C	ENSP00000398543.1:p.Val1162Leu
ENST00000469599.6:n.2205G>C
ENST00000492117.1:n.3499G>C
ENST00000541639.5:c.3700G>C	ENSP00000444293.1:p.Val1234Leu
NM_001146705.1:c.3700G>C	NP_001140177.1:p.Val1234Leu
NM_001146706.1:c.3436G>C	NP_001140178.1:p.Val1146Leu
NM_004653.4:c.3607G>C	NP_004644.2:p.Val1203Leu
XM_005262560.1:c.3472G>C	XP_005262617.1:p.Val1158Leu
XM_005262561.1:c.3376G>C	XP_005262618.1:p.Val1126Leu
XM_011531468.1:c.3529G>C	XP_011529770.1:p.Val1177Leu
XR_244571.2:n.3895G>C
XR_430568.2:n.4229G>C
XM_005262560.3:c.3472G>C	XP_005262617.1:p.Val1158Leu
XM_005262561.3:c.3376G>C	XP_005262618.1:p.Val1126Leu
XM_011531468.3:c.3529G>C	XP_011529770.1:p.Val1177Leu
XM_024452495.1:c.1597G>C	XP_024308263.1:p.Val533Leu
XM_024452496.1:c.1363G>C	XP_024308264.1:p.Val455Leu
XR_001756009.2:n.4345G>C
XR_001756010.2:n.4345G>C
XR_001756011.2:n.4210G>C
XR_001756012.2:n.4358G>C
XR_001756013.2:n.3676G>C
XR_002958832.1:n.3777G>C
XR_002958834.1:n.4001G>C
XR_002958835.1:n.3884G>C
XR_002958836.1:n.4567G>C
XR_002958837.1:n.4374G>C
XR_244571.4:n.3894G>C
XR_430568.4:n.4228G>C
NM_001146706.2:c.3436G>C	NP_001140178.1:p.Val1146Leu
NM_004653.5:c.3607G>C MANE Select	NP_004644.2:p.Val1203Leu
NM_001146705.2:c.3700G>C	NP_001140177.1:p.Val1234Leu