Canonical Allele Identifier: CA414844063

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869583T>G (hg19) ; chrY:g.19707697T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707697T>G , CM000686.2:g.19707697T>G	GRCh38
NC_000024.9:g.21869583T>G , CM000686.1:g.21869583T>G	GRCh37
NC_000024.8:g.20328971T>G	NCBI36
NG_032920.1:g.42243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3449A>C MANE Select	ENSP00000322408.4:p.Gln1150Pro
ENST00000317961.8:c.3449A>C	ENSP00000322408.4:p.Gln1150Pro
ENST00000382806.6:c.3278A>C	ENSP00000372256.2:p.Gln1093Pro
ENST00000415360.1:c.365A>C	ENSP00000389433.1:p.Gln122Pro
ENST00000440077.5:c.3326A>C	ENSP00000398543.1:p.Gln1109Pro
ENST00000469599.6:n.2047A>C
ENST00000492117.1:n.3341A>C
ENST00000541639.5:c.3542A>C	ENSP00000444293.1:p.Gln1181Pro
NM_001146705.1:c.3542A>C	NP_001140177.1:p.Gln1181Pro
NM_001146706.1:c.3278A>C	NP_001140178.1:p.Gln1093Pro
NM_004653.4:c.3449A>C	NP_004644.2:p.Gln1150Pro
XM_005262560.1:c.3314A>C	XP_005262617.1:p.Gln1105Pro
XM_005262561.1:c.3218A>C	XP_005262618.1:p.Gln1073Pro
XM_011531468.1:c.3371A>C	XP_011529770.1:p.Gln1124Pro
XR_244571.2:n.3737A>C
XR_430568.2:n.4071A>C
XM_005262560.3:c.3314A>C	XP_005262617.1:p.Gln1105Pro
XM_005262561.3:c.3218A>C	XP_005262618.1:p.Gln1073Pro
XM_011531468.3:c.3371A>C	XP_011529770.1:p.Gln1124Pro
XM_024452495.1:c.1439A>C	XP_024308263.1:p.Gln480Pro
XM_024452496.1:c.1205A>C	XP_024308264.1:p.Gln402Pro
XR_001756009.2:n.4187A>C
XR_001756010.2:n.4187A>C
XR_001756011.2:n.4052A>C
XR_001756012.2:n.4200A>C
XR_001756013.2:n.3518A>C
XR_002958832.1:n.3619A>C
XR_002958834.1:n.3843A>C
XR_002958835.1:n.3726A>C
XR_002958836.1:n.4409A>C
XR_002958837.1:n.4216A>C
XR_244571.4:n.3736A>C
XR_430568.4:n.4070A>C
NM_001146706.2:c.3278A>C	NP_001140178.1:p.Gln1093Pro
NM_004653.5:c.3449A>C MANE Select	NP_004644.2:p.Gln1150Pro
NM_001146705.2:c.3542A>C	NP_001140177.1:p.Gln1181Pro