Canonical Allele Identifier: CA334063250

Gene: COL4A5

Linked Data

• dbSNP Id: rs945565847
• MyVariant Identifiers: chrX:g.107938521T>C (hg19) ; chrX:g.108695291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695291T>C , CM000685.2:g.108695291T>C	GRCh38
NC_000023.10:g.107938521T>C , CM000685.1:g.107938521T>C	GRCh37
NC_000023.9:g.107825177T>C	NCBI36
NG_011977.1:g.260368T>C
NG_011977.2:g.260368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4846T>C MANE Select	ENSP00000331902.7:p.Ser1616Pro
ENST00000361603.7:c.4828T>C	ENSP00000354505.2:p.Ser1610Pro
ENST00000510690.2:n.1340T>C
ENST00000644079.1:n.1677T>C
ENST00000328300.10:c.4846T>C	ENSP00000331902.6:p.Ser1616Pro
ENST00000361603.6:c.4828T>C	ENSP00000354505.2:p.Ser1610Pro
ENST00000504541.1:c.219+370T>C	ENSP00000424845.1:n.219+370T>C
ENST00000515658.1:c.325-1006T>C
NM_000495.4:c.4828T>C	NP_000486.1:p.Ser1610Pro
NM_033380.2:c.4846T>C	NP_203699.1:p.Ser1616Pro
XM_005262070.2:c.4837T>C	XP_005262127.1:p.Ser1613Pro
XM_006724616.2:c.4846T>C	XP_006724679.1:p.Ser1616Pro
XM_011530849.1:c.4522T>C	XP_011529151.1:p.Ser1508Pro
XM_011530851.1:c.2419T>C	XP_011529153.1:p.Ser807Pro
XM_011530849.2:c.4861T>C	XP_011529151.2:p.Ser1621Pro
XM_017029259.2:c.4852T>C	XP_016884748.1:p.Ser1618Pro
XM_017029260.1:c.4843T>C	XP_016884749.1:p.Ser1615Pro
XM_017029263.2:c.3181T>C	XP_016884752.1:p.Ser1061Pro
NM_000495.5:c.4828T>C	NP_000486.1:p.Ser1610Pro
NM_033380.3:c.4846T>C MANE Select	NP_203699.1:p.Ser1616Pro