Canonical Allele Identifier: CA414844314

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869843C>G (hg19) ; chrY:g.19707957C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707957C>G , CM000686.2:g.19707957C>G	GRCh38
NC_000024.9:g.21869843C>G , CM000686.1:g.21869843C>G	GRCh37
NC_000024.8:g.20329231C>G	NCBI36
NG_032920.1:g.41983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3376G>C MANE Select	ENSP00000322408.4:p.Asp1126His
ENST00000317961.8:c.3376G>C	ENSP00000322408.4:p.Asp1126His
ENST00000382806.6:c.3205G>C	ENSP00000372256.2:p.Asp1069His
ENST00000415360.1:c.292G>C	ENSP00000389433.1:p.Asp98His
ENST00000440077.5:c.3253G>C	ENSP00000398543.1:p.Asp1085His
ENST00000469599.6:n.1974G>C
ENST00000492117.1:n.3268G>C
ENST00000541639.5:c.3469G>C	ENSP00000444293.1:p.Asp1157His
NM_001146705.1:c.3469G>C	NP_001140177.1:p.Asp1157His
NM_001146706.1:c.3205G>C	NP_001140178.1:p.Asp1069His
NM_004653.4:c.3376G>C	NP_004644.2:p.Asp1126His
XM_005262560.1:c.3241G>C	XP_005262617.1:p.Asp1081His
XM_005262561.1:c.3145G>C	XP_005262618.1:p.Asp1049His
XM_011531468.1:c.3298G>C	XP_011529770.1:p.Asp1100His
XR_244571.2:n.3664G>C
XR_430568.2:n.3998G>C
XM_005262560.3:c.3241G>C	XP_005262617.1:p.Asp1081His
XM_005262561.3:c.3145G>C	XP_005262618.1:p.Asp1049His
XM_011531468.3:c.3298G>C	XP_011529770.1:p.Asp1100His
XM_024452495.1:c.1366G>C	XP_024308263.1:p.Asp456His
XM_024452496.1:c.1132G>C	XP_024308264.1:p.Asp378His
XR_001756009.2:n.4114G>C
XR_001756010.2:n.4114G>C
XR_001756011.2:n.3979G>C
XR_001756012.2:n.4127G>C
XR_001756013.2:n.3445G>C
XR_002958832.1:n.3546G>C
XR_002958834.1:n.3770G>C
XR_002958835.1:n.3653G>C
XR_002958836.1:n.4336G>C
XR_002958837.1:n.4143G>C
XR_244571.4:n.3663G>C
XR_430568.4:n.3997G>C
NM_001146706.2:c.3205G>C	NP_001140178.1:p.Asp1069His
NM_004653.5:c.3376G>C MANE Select	NP_004644.2:p.Asp1126His
NM_001146705.2:c.3469G>C	NP_001140177.1:p.Asp1157His