Canonical Allele Identifier: CA414843729

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869484C>G (hg19) ; chrY:g.19707598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707598C>G , CM000686.2:g.19707598C>G	GRCh38
NC_000024.9:g.21869484C>G , CM000686.1:g.21869484C>G	GRCh37
NC_000024.8:g.20328872C>G	NCBI36
NG_032920.1:g.42342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3548G>C MANE Select	ENSP00000322408.4:p.Gly1183Ala
ENST00000317961.8:c.3548G>C	ENSP00000322408.4:p.Gly1183Ala
ENST00000382806.6:c.3377G>C	ENSP00000372256.2:p.Gly1126Ala
ENST00000415360.1:c.464G>C	ENSP00000389433.1:p.Gly155Ala
ENST00000440077.5:c.3425G>C	ENSP00000398543.1:p.Gly1142Ala
ENST00000469599.6:n.2146G>C
ENST00000492117.1:n.3440G>C
ENST00000541639.5:c.3641G>C	ENSP00000444293.1:p.Gly1214Ala
NM_001146705.1:c.3641G>C	NP_001140177.1:p.Gly1214Ala
NM_001146706.1:c.3377G>C	NP_001140178.1:p.Gly1126Ala
NM_004653.4:c.3548G>C	NP_004644.2:p.Gly1183Ala
XM_005262560.1:c.3413G>C	XP_005262617.1:p.Gly1138Ala
XM_005262561.1:c.3317G>C	XP_005262618.1:p.Gly1106Ala
XM_011531468.1:c.3470G>C	XP_011529770.1:p.Gly1157Ala
XR_244571.2:n.3836G>C
XR_430568.2:n.4170G>C
XM_005262560.3:c.3413G>C	XP_005262617.1:p.Gly1138Ala
XM_005262561.3:c.3317G>C	XP_005262618.1:p.Gly1106Ala
XM_011531468.3:c.3470G>C	XP_011529770.1:p.Gly1157Ala
XM_024452495.1:c.1538G>C	XP_024308263.1:p.Gly513Ala
XM_024452496.1:c.1304G>C	XP_024308264.1:p.Gly435Ala
XR_001756009.2:n.4286G>C
XR_001756010.2:n.4286G>C
XR_001756011.2:n.4151G>C
XR_001756012.2:n.4299G>C
XR_001756013.2:n.3617G>C
XR_002958832.1:n.3718G>C
XR_002958834.1:n.3942G>C
XR_002958835.1:n.3825G>C
XR_002958836.1:n.4508G>C
XR_002958837.1:n.4315G>C
XR_244571.4:n.3835G>C
XR_430568.4:n.4169G>C
NM_001146706.2:c.3377G>C	NP_001140178.1:p.Gly1126Ala
NM_004653.5:c.3548G>C MANE Select	NP_004644.2:p.Gly1183Ala
NM_001146705.2:c.3641G>C	NP_001140177.1:p.Gly1214Ala