Canonical Allele Identifier: CA414840061

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867968T>G (hg19) ; chrY:g.19706082T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706082T>G , CM000686.2:g.19706082T>G	GRCh38
NC_000024.9:g.21867968T>G , CM000686.1:g.21867968T>G	GRCh37
NC_000024.8:g.20327356T>G	NCBI36
NG_032920.1:g.43858A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4533A>C MANE Select	ENSP00000322408.4:p.Leu1511Phe
ENST00000317961.8:c.4533A>C	ENSP00000322408.4:p.Leu1511Phe
ENST00000382806.6:c.4362A>C	ENSP00000372256.2:p.Leu1454Phe
ENST00000440077.5:c.4410A>C	ENSP00000398543.1:p.Leu1470Phe
ENST00000469599.6:n.3284A>C
ENST00000492117.1:n.4578A>C
ENST00000541639.5:c.4626A>C	ENSP00000444293.1:p.Leu1542Phe
NM_001146705.1:c.4626A>C	NP_001140177.1:p.Leu1542Phe
NM_001146706.1:c.4362A>C	NP_001140178.1:p.Leu1454Phe
NM_004653.4:c.4533A>C	NP_004644.2:p.Leu1511Phe
XM_005262560.1:c.4398A>C	XP_005262617.1:p.Leu1466Phe
XM_005262561.1:c.4302A>C	XP_005262618.1:p.Leu1434Phe
XM_011531468.1:c.4455A>C	XP_011529770.1:p.Leu1485Phe
XR_430568.2:n.5308A>C
XM_005262560.3:c.4398A>C	XP_005262617.1:p.Leu1466Phe
XM_005262561.3:c.4302A>C	XP_005262618.1:p.Leu1434Phe
XM_011531468.3:c.4455A>C	XP_011529770.1:p.Leu1485Phe
XM_024452495.1:c.2523A>C	XP_024308263.1:p.Leu841Phe
XM_024452496.1:c.2289A>C	XP_024308264.1:p.Leu763Phe
XR_001756009.2:n.5271A>C
XR_001756010.2:n.5239A>C
XR_001756011.2:n.5136A>C
XR_001756012.2:n.5284A>C
XR_001756013.2:n.4602A>C
XR_002958832.1:n.4856A>C
XR_002958834.1:n.4927A>C
XR_002958835.1:n.4810A>C
XR_002958836.1:n.5461A>C
XR_002958837.1:n.5268A>C
XR_244571.4:n.4788A>C
XR_430568.4:n.5307A>C
NM_001146706.2:c.4362A>C	NP_001140178.1:p.Leu1454Phe
NM_004653.5:c.4533A>C MANE Select	NP_004644.2:p.Leu1511Phe
NM_001146705.2:c.4626A>C	NP_001140177.1:p.Leu1542Phe