Canonical Allele Identifier: CA414844425

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869877C>G (hg19) ; chrY:g.19707991C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707991C>G , CM000686.2:g.19707991C>G	GRCh38
NC_000024.9:g.21869877C>G , CM000686.1:g.21869877C>G	GRCh37
NC_000024.8:g.20329265C>G	NCBI36
NG_032920.1:g.41949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3342G>C MANE Select	ENSP00000322408.4:p.Gln1114His
ENST00000317961.8:c.3342G>C	ENSP00000322408.4:p.Gln1114His
ENST00000382806.6:c.3171G>C	ENSP00000372256.2:p.Gln1057His
ENST00000415360.1:c.258G>C	ENSP00000389433.1:p.Gln86His
ENST00000440077.5:c.3219G>C	ENSP00000398543.1:p.Gln1073His
ENST00000469599.6:n.1940G>C
ENST00000492117.1:n.3234G>C
ENST00000541639.5:c.3435G>C	ENSP00000444293.1:p.Gln1145His
NM_001146705.1:c.3435G>C	NP_001140177.1:p.Gln1145His
NM_001146706.1:c.3171G>C	NP_001140178.1:p.Gln1057His
NM_004653.4:c.3342G>C	NP_004644.2:p.Gln1114His
XM_005262560.1:c.3207G>C	XP_005262617.1:p.Gln1069His
XM_005262561.1:c.3111G>C	XP_005262618.1:p.Gln1037His
XM_011531468.1:c.3264G>C	XP_011529770.1:p.Gln1088His
XR_244571.2:n.3630G>C
XR_430568.2:n.3964G>C
XM_005262560.3:c.3207G>C	XP_005262617.1:p.Gln1069His
XM_005262561.3:c.3111G>C	XP_005262618.1:p.Gln1037His
XM_011531468.3:c.3264G>C	XP_011529770.1:p.Gln1088His
XM_024452495.1:c.1332G>C	XP_024308263.1:p.Gln444His
XM_024452496.1:c.1098G>C	XP_024308264.1:p.Gln366His
XR_001756009.2:n.4080G>C
XR_001756010.2:n.4080G>C
XR_001756011.2:n.3945G>C
XR_001756012.2:n.4093G>C
XR_001756013.2:n.3411G>C
XR_002958832.1:n.3512G>C
XR_002958834.1:n.3736G>C
XR_002958835.1:n.3619G>C
XR_002958836.1:n.4302G>C
XR_002958837.1:n.4109G>C
XR_244571.4:n.3629G>C
XR_430568.4:n.3963G>C
NM_001146706.2:c.3171G>C	NP_001140178.1:p.Gln1057His
NM_004653.5:c.3342G>C MANE Select	NP_004644.2:p.Gln1114His
NM_001146705.2:c.3435G>C	NP_001140177.1:p.Gln1145His