Canonical Allele Identifier: CA517926064

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938514A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695284A>C , CM000685.2:g.108695284A>C	GRCh38
NC_000023.10:g.107938514A>C , CM000685.1:g.107938514A>C	GRCh37
NC_000023.9:g.107825170A>C	NCBI36
NG_011977.1:g.260361A>C
NG_011977.2:g.260361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4839A>C MANE Select	ENSP00000331902.7:p.Ala1613=
ENST00000361603.7:c.4821A>C	ENSP00000354505.2:p.Ala1607=
ENST00000510690.2:n.1333A>C
ENST00000644079.1:n.1670A>C
ENST00000328300.10:c.4839A>C	ENSP00000331902.6:p.Ala1613=
ENST00000361603.6:c.4821A>C	ENSP00000354505.2:p.Ala1607=
ENST00000504541.1:c.219+363A>C	ENSP00000424845.1:n.219+363A>C
ENST00000515658.1:c.325-1013A>C
NM_000495.4:c.4821A>C	NP_000486.1:p.Ala1607=
NM_033380.2:c.4839A>C	NP_203699.1:p.Ala1613=
XM_005262070.2:c.4830A>C	XP_005262127.1:p.Ala1610=
XM_006724616.2:c.4839A>C	XP_006724679.1:p.Ala1613=
XM_011530849.1:c.4515A>C	XP_011529151.1:p.Ala1505=
XM_011530851.1:c.2412A>C	XP_011529153.1:p.Ala804=
XM_011530849.2:c.4854A>C	XP_011529151.2:p.Ala1618=
XM_017029259.2:c.4845A>C	XP_016884748.1:p.Ala1615=
XM_017029260.1:c.4836A>C	XP_016884749.1:p.Ala1612=
XM_017029263.2:c.3174A>C	XP_016884752.1:p.Ala1058=
NM_000495.5:c.4821A>C	NP_000486.1:p.Ala1607=
NM_033380.3:c.4839A>C MANE Select	NP_203699.1:p.Ala1613=