Canonical Allele Identifier: CA414844235

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869821A>G (hg19) ; chrY:g.19707935A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707935A>G , CM000686.2:g.19707935A>G	GRCh38
NC_000024.9:g.21869821A>G , CM000686.1:g.21869821A>G	GRCh37
NC_000024.8:g.20329209A>G	NCBI36
NG_032920.1:g.42005T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3398T>C MANE Select	ENSP00000322408.4:p.Val1133Ala
ENST00000317961.8:c.3398T>C	ENSP00000322408.4:p.Val1133Ala
ENST00000382806.6:c.3227T>C	ENSP00000372256.2:p.Val1076Ala
ENST00000415360.1:c.314T>C	ENSP00000389433.1:p.Val105Ala
ENST00000440077.5:c.3275T>C	ENSP00000398543.1:p.Val1092Ala
ENST00000469599.6:n.1996T>C
ENST00000492117.1:n.3290T>C
ENST00000541639.5:c.3491T>C	ENSP00000444293.1:p.Val1164Ala
NM_001146705.1:c.3491T>C	NP_001140177.1:p.Val1164Ala
NM_001146706.1:c.3227T>C	NP_001140178.1:p.Val1076Ala
NM_004653.4:c.3398T>C	NP_004644.2:p.Val1133Ala
XM_005262560.1:c.3263T>C	XP_005262617.1:p.Val1088Ala
XM_005262561.1:c.3167T>C	XP_005262618.1:p.Val1056Ala
XM_011531468.1:c.3320T>C	XP_011529770.1:p.Val1107Ala
XR_244571.2:n.3686T>C
XR_430568.2:n.4020T>C
XM_005262560.3:c.3263T>C	XP_005262617.1:p.Val1088Ala
XM_005262561.3:c.3167T>C	XP_005262618.1:p.Val1056Ala
XM_011531468.3:c.3320T>C	XP_011529770.1:p.Val1107Ala
XM_024452495.1:c.1388T>C	XP_024308263.1:p.Val463Ala
XM_024452496.1:c.1154T>C	XP_024308264.1:p.Val385Ala
XR_001756009.2:n.4136T>C
XR_001756010.2:n.4136T>C
XR_001756011.2:n.4001T>C
XR_001756012.2:n.4149T>C
XR_001756013.2:n.3467T>C
XR_002958832.1:n.3568T>C
XR_002958834.1:n.3792T>C
XR_002958835.1:n.3675T>C
XR_002958836.1:n.4358T>C
XR_002958837.1:n.4165T>C
XR_244571.4:n.3685T>C
XR_430568.4:n.4019T>C
NM_001146706.2:c.3227T>C	NP_001140178.1:p.Val1076Ala
NM_004653.5:c.3398T>C MANE Select	NP_004644.2:p.Val1133Ala
NM_001146705.2:c.3491T>C	NP_001140177.1:p.Val1164Ala