Canonical Allele Identifier: CA520516511

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869375C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707489C>G , CM000686.2:g.19707489C>G	GRCh38
NC_000024.9:g.21869375C>G , CM000686.1:g.21869375C>G	GRCh37
NC_000024.8:g.20328763C>G	NCBI36
NG_032920.1:g.42451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3657G>C MANE Select	ENSP00000322408.4:p.Leu1219=
ENST00000317961.8:c.3657G>C	ENSP00000322408.4:p.Leu1219=
ENST00000382806.6:c.3486G>C	ENSP00000372256.2:p.Leu1162=
ENST00000415360.1:c.573G>C	ENSP00000389433.1:p.Leu191=
ENST00000440077.5:c.3534G>C	ENSP00000398543.1:p.Leu1178=
ENST00000469599.6:n.2255G>C
ENST00000492117.1:n.3549G>C
ENST00000541639.5:c.3750G>C	ENSP00000444293.1:p.Leu1250=
NM_001146705.1:c.3750G>C	NP_001140177.1:p.Leu1250=
NM_001146706.1:c.3486G>C	NP_001140178.1:p.Leu1162=
NM_004653.4:c.3657G>C	NP_004644.2:p.Leu1219=
XM_005262560.1:c.3522G>C	XP_005262617.1:p.Leu1174=
XM_005262561.1:c.3426G>C	XP_005262618.1:p.Leu1142=
XM_011531468.1:c.3579G>C	XP_011529770.1:p.Leu1193=
XR_244571.2:n.3945G>C
XR_430568.2:n.4279G>C
XM_005262560.3:c.3522G>C	XP_005262617.1:p.Leu1174=
XM_005262561.3:c.3426G>C	XP_005262618.1:p.Leu1142=
XM_011531468.3:c.3579G>C	XP_011529770.1:p.Leu1193=
XM_024452495.1:c.1647G>C	XP_024308263.1:p.Leu549=
XM_024452496.1:c.1413G>C	XP_024308264.1:p.Leu471=
XR_001756009.2:n.4395G>C
XR_001756010.2:n.4395G>C
XR_001756011.2:n.4260G>C
XR_001756012.2:n.4408G>C
XR_001756013.2:n.3726G>C
XR_002958832.1:n.3827G>C
XR_002958834.1:n.4051G>C
XR_002958835.1:n.3934G>C
XR_002958836.1:n.4617G>C
XR_002958837.1:n.4424G>C
XR_244571.4:n.3944G>C
XR_430568.4:n.4278G>C
NM_001146706.2:c.3486G>C	NP_001140178.1:p.Leu1162=
NM_004653.5:c.3657G>C MANE Select	NP_004644.2:p.Leu1219=
NM_001146705.2:c.3750G>C	NP_001140177.1:p.Leu1250=