Canonical Allele Identifier: CA414840401

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868054A>G (hg19) ; chrY:g.19706168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706168A>G , CM000686.2:g.19706168A>G	GRCh38
NC_000024.9:g.21868054A>G , CM000686.1:g.21868054A>G	GRCh37
NC_000024.8:g.20327442A>G	NCBI36
NG_032920.1:g.43772T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4447T>C MANE Select	ENSP00000322408.4:p.Tyr1483His
ENST00000317961.8:c.4447T>C	ENSP00000322408.4:p.Tyr1483His
ENST00000382806.6:c.4276T>C	ENSP00000372256.2:p.Tyr1426His
ENST00000440077.5:c.4324T>C	ENSP00000398543.1:p.Tyr1442His
ENST00000469599.6:n.3198T>C
ENST00000492117.1:n.4492T>C
ENST00000541639.5:c.4540T>C	ENSP00000444293.1:p.Tyr1514His
NM_001146705.1:c.4540T>C	NP_001140177.1:p.Tyr1514His
NM_001146706.1:c.4276T>C	NP_001140178.1:p.Tyr1426His
NM_004653.4:c.4447T>C	NP_004644.2:p.Tyr1483His
XM_005262560.1:c.4312T>C	XP_005262617.1:p.Tyr1438His
XM_005262561.1:c.4216T>C	XP_005262618.1:p.Tyr1406His
XM_011531468.1:c.4369T>C	XP_011529770.1:p.Tyr1457His
XR_430568.2:n.5222T>C
XM_005262560.3:c.4312T>C	XP_005262617.1:p.Tyr1438His
XM_005262561.3:c.4216T>C	XP_005262618.1:p.Tyr1406His
XM_011531468.3:c.4369T>C	XP_011529770.1:p.Tyr1457His
XM_024452495.1:c.2437T>C	XP_024308263.1:p.Tyr813His
XM_024452496.1:c.2203T>C	XP_024308264.1:p.Tyr735His
XR_001756009.2:n.5185T>C
XR_001756010.2:n.5153T>C
XR_001756011.2:n.5050T>C
XR_001756012.2:n.5198T>C
XR_001756013.2:n.4516T>C
XR_002958832.1:n.4770T>C
XR_002958834.1:n.4841T>C
XR_002958835.1:n.4724T>C
XR_002958836.1:n.5375T>C
XR_002958837.1:n.5182T>C
XR_244571.4:n.4702T>C
XR_430568.4:n.5221T>C
NM_001146706.2:c.4276T>C	NP_001140178.1:p.Tyr1426His
NM_004653.5:c.4447T>C MANE Select	NP_004644.2:p.Tyr1483His
NM_001146705.2:c.4540T>C	NP_001140177.1:p.Tyr1514His