Canonical Allele Identifier: CA414843513

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869431C>G (hg19) ; chrY:g.19707545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707545C>G , CM000686.2:g.19707545C>G	GRCh38
NC_000024.9:g.21869431C>G , CM000686.1:g.21869431C>G	GRCh37
NC_000024.8:g.20328819C>G	NCBI36
NG_032920.1:g.42395G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3601G>C MANE Select	ENSP00000322408.4:p.Val1201Leu
ENST00000317961.8:c.3601G>C	ENSP00000322408.4:p.Val1201Leu
ENST00000382806.6:c.3430G>C	ENSP00000372256.2:p.Val1144Leu
ENST00000415360.1:c.517G>C	ENSP00000389433.1:p.Val173Leu
ENST00000440077.5:c.3478G>C	ENSP00000398543.1:p.Val1160Leu
ENST00000469599.6:n.2199G>C
ENST00000492117.1:n.3493G>C
ENST00000541639.5:c.3694G>C	ENSP00000444293.1:p.Val1232Leu
NM_001146705.1:c.3694G>C	NP_001140177.1:p.Val1232Leu
NM_001146706.1:c.3430G>C	NP_001140178.1:p.Val1144Leu
NM_004653.4:c.3601G>C	NP_004644.2:p.Val1201Leu
XM_005262560.1:c.3466G>C	XP_005262617.1:p.Val1156Leu
XM_005262561.1:c.3370G>C	XP_005262618.1:p.Val1124Leu
XM_011531468.1:c.3523G>C	XP_011529770.1:p.Val1175Leu
XR_244571.2:n.3889G>C
XR_430568.2:n.4223G>C
XM_005262560.3:c.3466G>C	XP_005262617.1:p.Val1156Leu
XM_005262561.3:c.3370G>C	XP_005262618.1:p.Val1124Leu
XM_011531468.3:c.3523G>C	XP_011529770.1:p.Val1175Leu
XM_024452495.1:c.1591G>C	XP_024308263.1:p.Val531Leu
XM_024452496.1:c.1357G>C	XP_024308264.1:p.Val453Leu
XR_001756009.2:n.4339G>C
XR_001756010.2:n.4339G>C
XR_001756011.2:n.4204G>C
XR_001756012.2:n.4352G>C
XR_001756013.2:n.3670G>C
XR_002958832.1:n.3771G>C
XR_002958834.1:n.3995G>C
XR_002958835.1:n.3878G>C
XR_002958836.1:n.4561G>C
XR_002958837.1:n.4368G>C
XR_244571.4:n.3888G>C
XR_430568.4:n.4222G>C
NM_001146706.2:c.3430G>C	NP_001140178.1:p.Val1144Leu
NM_004653.5:c.3601G>C MANE Select	NP_004644.2:p.Val1201Leu
NM_001146705.2:c.3694G>C	NP_001140177.1:p.Val1232Leu