Canonical Allele Identifier: CA414839989

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867954G>C (hg19) ; chrY:g.19706068G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706068G>C , CM000686.2:g.19706068G>C	GRCh38
NC_000024.9:g.21867954G>C , CM000686.1:g.21867954G>C	GRCh37
NC_000024.8:g.20327342G>C	NCBI36
NG_032920.1:g.43872C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4547C>G MANE Select	ENSP00000322408.4:p.Ser1516Ter
ENST00000317961.8:c.4547C>G	ENSP00000322408.4:p.Ser1516Ter
ENST00000382806.6:c.4376C>G	ENSP00000372256.2:p.Ser1459Ter
ENST00000440077.5:c.4424C>G	ENSP00000398543.1:p.Ser1475Ter
ENST00000469599.6:n.3298C>G
ENST00000492117.1:n.4592C>G
ENST00000541639.5:c.4640C>G	ENSP00000444293.1:p.Ser1547Ter
NM_001146705.1:c.4640C>G	NP_001140177.1:p.Ser1547Ter
NM_001146706.1:c.4376C>G	NP_001140178.1:p.Ser1459Ter
NM_004653.4:c.4547C>G	NP_004644.2:p.Ser1516Ter
XM_005262560.1:c.4412C>G	XP_005262617.1:p.Ser1471Ter
XM_005262561.1:c.4316C>G	XP_005262618.1:p.Ser1439Ter
XM_011531468.1:c.4469C>G	XP_011529770.1:p.Ser1490Ter
XR_430568.2:n.5322C>G
XM_005262560.3:c.4412C>G	XP_005262617.1:p.Ser1471Ter
XM_005262561.3:c.4316C>G	XP_005262618.1:p.Ser1439Ter
XM_011531468.3:c.4469C>G	XP_011529770.1:p.Ser1490Ter
XM_024452495.1:c.2537C>G	XP_024308263.1:p.Ser846Ter
XM_024452496.1:c.2303C>G	XP_024308264.1:p.Ser768Ter
XR_001756009.2:n.5285C>G
XR_001756010.2:n.5253C>G
XR_001756011.2:n.5150C>G
XR_001756012.2:n.5298C>G
XR_001756013.2:n.4616C>G
XR_002958832.1:n.4870C>G
XR_002958834.1:n.4941C>G
XR_002958835.1:n.4824C>G
XR_002958836.1:n.5475C>G
XR_002958837.1:n.5282C>G
XR_244571.4:n.4802C>G
XR_430568.4:n.5321C>G
NM_001146706.2:c.4376C>G	NP_001140178.1:p.Ser1459Ter
NM_004653.5:c.4547C>G MANE Select	NP_004644.2:p.Ser1516Ter
NM_001146705.2:c.4640C>G	NP_001140177.1:p.Ser1547Ter