Canonical Allele Identifier: CA414132862

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938602A>C (hg19) ; chrX:g.108695372A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695372A>C , CM000685.2:g.108695372A>C	GRCh38
NC_000023.10:g.107938602A>C , CM000685.1:g.107938602A>C	GRCh37
NC_000023.9:g.107825258A>C	NCBI36
NG_011977.1:g.260449A>C
NG_011977.2:g.260449A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4927A>C MANE Select	ENSP00000331902.7:p.Thr1643Pro
ENST00000361603.7:c.4909A>C	ENSP00000354505.2:p.Thr1637Pro
ENST00000510690.2:n.1421A>C
ENST00000644079.1:n.1758A>C
ENST00000328300.10:c.4927A>C	ENSP00000331902.6:p.Thr1643Pro
ENST00000361603.6:c.4909A>C	ENSP00000354505.2:p.Thr1637Pro
ENST00000504541.1:c.219+451A>C	ENSP00000424845.1:n.219+451A>C
ENST00000515658.1:c.325-925A>C
NM_000495.4:c.4909A>C	NP_000486.1:p.Thr1637Pro
NM_033380.2:c.4927A>C	NP_203699.1:p.Thr1643Pro
XM_005262070.2:c.4918A>C	XP_005262127.1:p.Thr1640Pro
XM_006724616.2:c.4927A>C	XP_006724679.1:p.Thr1643Pro
XM_011530849.1:c.4603A>C	XP_011529151.1:p.Thr1535Pro
XM_011530851.1:c.2500A>C	XP_011529153.1:p.Thr834Pro
XM_011530849.2:c.4942A>C	XP_011529151.2:p.Thr1648Pro
XM_017029259.2:c.4933A>C	XP_016884748.1:p.Thr1645Pro
XM_017029260.1:c.4924A>C	XP_016884749.1:p.Thr1642Pro
XM_017029263.2:c.3262A>C	XP_016884752.1:p.Thr1088Pro
NM_000495.5:c.4909A>C	NP_000486.1:p.Thr1637Pro
NM_033380.3:c.4927A>C MANE Select	NP_203699.1:p.Thr1643Pro