Canonical Allele Identifier: CA414844442

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869881T>G (hg19) ; chrY:g.19707995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707995T>G , CM000686.2:g.19707995T>G	GRCh38
NC_000024.9:g.21869881T>G , CM000686.1:g.21869881T>G	GRCh37
NC_000024.8:g.20329269T>G	NCBI36
NG_032920.1:g.41945A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3338A>C MANE Select	ENSP00000322408.4:p.Tyr1113Ser
ENST00000317961.8:c.3338A>C	ENSP00000322408.4:p.Tyr1113Ser
ENST00000382806.6:c.3167A>C	ENSP00000372256.2:p.Tyr1056Ser
ENST00000415360.1:c.254A>C	ENSP00000389433.1:p.Tyr85Ser
ENST00000440077.5:c.3215A>C	ENSP00000398543.1:p.Tyr1072Ser
ENST00000469599.6:n.1936A>C
ENST00000492117.1:n.3230A>C
ENST00000541639.5:c.3431A>C	ENSP00000444293.1:p.Tyr1144Ser
NM_001146705.1:c.3431A>C	NP_001140177.1:p.Tyr1144Ser
NM_001146706.1:c.3167A>C	NP_001140178.1:p.Tyr1056Ser
NM_004653.4:c.3338A>C	NP_004644.2:p.Tyr1113Ser
XM_005262560.1:c.3203A>C	XP_005262617.1:p.Tyr1068Ser
XM_005262561.1:c.3107A>C	XP_005262618.1:p.Tyr1036Ser
XM_011531468.1:c.3260A>C	XP_011529770.1:p.Tyr1087Ser
XR_244571.2:n.3626A>C
XR_430568.2:n.3960A>C
XM_005262560.3:c.3203A>C	XP_005262617.1:p.Tyr1068Ser
XM_005262561.3:c.3107A>C	XP_005262618.1:p.Tyr1036Ser
XM_011531468.3:c.3260A>C	XP_011529770.1:p.Tyr1087Ser
XM_024452495.1:c.1328A>C	XP_024308263.1:p.Tyr443Ser
XM_024452496.1:c.1094A>C	XP_024308264.1:p.Tyr365Ser
XR_001756009.2:n.4076A>C
XR_001756010.2:n.4076A>C
XR_001756011.2:n.3941A>C
XR_001756012.2:n.4089A>C
XR_001756013.2:n.3407A>C
XR_002958832.1:n.3508A>C
XR_002958834.1:n.3732A>C
XR_002958835.1:n.3615A>C
XR_002958836.1:n.4298A>C
XR_002958837.1:n.4105A>C
XR_244571.4:n.3625A>C
XR_430568.4:n.3959A>C
NM_001146706.2:c.3167A>C	NP_001140178.1:p.Tyr1056Ser
NM_004653.5:c.3338A>C MANE Select	NP_004644.2:p.Tyr1113Ser
NM_001146705.2:c.3431A>C	NP_001140177.1:p.Tyr1144Ser