Canonical Allele Identifier: CA414844667

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869927C>G (hg19) ; chrY:g.19708041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708041C>G , CM000686.2:g.19708041C>G	GRCh38
NC_000024.9:g.21869927C>G , CM000686.1:g.21869927C>G	GRCh37
NC_000024.8:g.20329315C>G	NCBI36
NG_032920.1:g.41899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3292G>C MANE Select	ENSP00000322408.4:p.Asp1098His
ENST00000317961.8:c.3292G>C	ENSP00000322408.4:p.Asp1098His
ENST00000382806.6:c.3121G>C	ENSP00000372256.2:p.Asp1041His
ENST00000415360.1:c.208G>C	ENSP00000389433.1:p.Asp70His
ENST00000440077.5:c.3169G>C	ENSP00000398543.1:p.Asp1057His
ENST00000469599.6:n.1890G>C
ENST00000492117.1:n.3184G>C
ENST00000541639.5:c.3385G>C	ENSP00000444293.1:p.Asp1129His
NM_001146705.1:c.3385G>C	NP_001140177.1:p.Asp1129His
NM_001146706.1:c.3121G>C	NP_001140178.1:p.Asp1041His
NM_004653.4:c.3292G>C	NP_004644.2:p.Asp1098His
XM_005262560.1:c.3157G>C	XP_005262617.1:p.Asp1053His
XM_005262561.1:c.3061G>C	XP_005262618.1:p.Asp1021His
XM_011531468.1:c.3214G>C	XP_011529770.1:p.Asp1072His
XR_244571.2:n.3580G>C
XR_430568.2:n.3914G>C
XM_005262560.3:c.3157G>C	XP_005262617.1:p.Asp1053His
XM_005262561.3:c.3061G>C	XP_005262618.1:p.Asp1021His
XM_011531468.3:c.3214G>C	XP_011529770.1:p.Asp1072His
XM_024452495.1:c.1282G>C	XP_024308263.1:p.Asp428His
XM_024452496.1:c.1048G>C	XP_024308264.1:p.Asp350His
XR_001756009.2:n.4030G>C
XR_001756010.2:n.4030G>C
XR_001756011.2:n.3895G>C
XR_001756012.2:n.4043G>C
XR_001756013.2:n.3361G>C
XR_002958832.1:n.3462G>C
XR_002958834.1:n.3686G>C
XR_002958835.1:n.3569G>C
XR_002958836.1:n.4252G>C
XR_002958837.1:n.4059G>C
XR_244571.4:n.3579G>C
XR_430568.4:n.3913G>C
NM_001146706.2:c.3121G>C	NP_001140178.1:p.Asp1041His
NM_004653.5:c.3292G>C MANE Select	NP_004644.2:p.Asp1098His
NM_001146705.2:c.3385G>C	NP_001140177.1:p.Asp1129His