Canonical Allele Identifier: CA413850433

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920804C>A (hg19) ; chrX:g.108677574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677574C>A , CM000685.2:g.108677574C>A	GRCh38
NC_000023.10:g.107920804C>A , CM000685.1:g.107920804C>A	GRCh37
NC_000023.9:g.107807460C>A	NCBI36
NG_011977.1:g.242651C>A
NG_011977.2:g.242651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3883C>A MANE Select	ENSP00000331902.7:p.Gln1295Lys
ENST00000361603.7:c.3865C>A	ENSP00000354505.2:p.Gln1289Lys
ENST00000510690.2:n.377C>A
ENST00000328300.10:c.3883C>A	ENSP00000331902.6:p.Gln1295Lys
ENST00000361603.6:c.3865C>A	ENSP00000354505.2:p.Gln1289Lys
ENST00000489230.1:n.286C>A
ENST00000510690.1:n.377C>A
NM_000495.4:c.3865C>A	NP_000486.1:p.Gln1289Lys
NM_033380.2:c.3883C>A	NP_203699.1:p.Gln1295Lys
XM_005262070.2:c.3874C>A	XP_005262127.1:p.Gln1292Lys
XM_006724616.2:c.3883C>A	XP_006724679.1:p.Gln1295Lys
XM_011530849.1:c.3559C>A	XP_011529151.1:p.Gln1187Lys
XM_011530851.1:c.1456C>A	XP_011529153.1:p.Gln486Lys
XM_011530849.2:c.3898C>A	XP_011529151.2:p.Gln1300Lys
XM_017029259.2:c.3889C>A	XP_016884748.1:p.Gln1297Lys
XM_017029260.1:c.3880C>A	XP_016884749.1:p.Gln1294Lys
XM_017029261.1:c.3898C>A	XP_016884750.1:p.Gln1300Lys
XM_017029263.2:c.2218C>A	XP_016884752.1:p.Gln740Lys
NM_000495.5:c.3865C>A	NP_000486.1:p.Gln1289Lys
NM_033380.3:c.3883C>A MANE Select	NP_203699.1:p.Gln1295Lys