Canonical Allele Identifier: CA391617429

Gene: SLC12A6

Linked Data

• MyVariant Identifiers: chr15:g.34528216G>T (hg19) ; chr15:g.34236015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236015G>T , CM000677.2:g.34236015G>T	GRCh38
NC_000015.9:g.34528216G>T , CM000677.1:g.34528216G>T	GRCh37
NC_000015.8:g.32315508G>T	NCBI36
NG_007951.1:g.107050C>A , LRG_270:g.107050C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3227C>A MANE Select	ENSP00000346112.3:p.Pro1076Gln
ENST00000676379.1:c.3227C>A	ENSP00000502539.1:p.Pro1076Gln
ENST00000290209.9:c.3074C>A	ENSP00000290209.5:p.Pro1025Gln
ENST00000354181.7:c.3227C>A	ENSP00000346112.3:p.Pro1076Gln
ENST00000397702.6:c.3050C>A	ENSP00000380814.2:p.Pro1017Gln
ENST00000397707.6:c.3182C>A	ENSP00000380819.2:p.Pro1061Gln
ENST00000458406.6:c.3050C>A	ENSP00000387725.2:p.Pro1017Gln
ENST00000558589.5:c.3200C>A	ENSP00000452776.1:p.Pro1067Gln
ENST00000558667.5:c.3227C>A	ENSP00000453473.1:p.Pro1076Gln
ENST00000559523.5:c.*250C>A	ENSP00000452904.1:n.*250C>A
ENST00000559664.5:c.*436C>A	ENSP00000453702.1:n.*436C>A
ENST00000560164.5:c.2663C>A	ENSP00000452705.1:p.Pro888Gln
ENST00000560611.5:c.3227C>A	ENSP00000454168.1:p.Pro1076Gln
ENST00000561080.5:c.*465C>A	ENSP00000454069.1:n.*465C>A
NM_001042494.1:c.3050C>A	NP_001035959.1:p.Pro1017Gln
NM_001042495.1:c.3050C>A	NP_001035960.1:p.Pro1017Gln
NM_001042496.1:c.3200C>A	NP_001035961.1:p.Pro1067Gln
NM_001042497.1:c.3182C>A	NP_001035962.1:p.Pro1061Gln
NM_005135.2:c.3074C>A , LRG_270t1:c.3074C>A	NP_005126.1:p.Pro1025Gln
NM_133647.1:c.3227C>A , LRG_270t2:c.3227C>A	NP_598408.1:p.Pro1076Gln
XM_006720793.2:c.3080C>A	XP_006720856.1:p.Pro1027Gln
XM_011522267.1:c.3227C>A	XP_011520569.1:p.Pro1076Gln
XM_011522268.1:c.3227C>A	XP_011520570.1:p.Pro1076Gln
XR_429476.2:n.3233C>A
NM_001365088.1:c.3227C>A MANE Select	NP_001352017.1:p.Pro1076Gln
XM_006720793.4:c.3080C>A	XP_006720856.1:p.Pro1027Gln
XR_931960.3:n.4506C>A
NM_001042494.2:c.3050C>A	NP_001035959.1:p.Pro1017Gln
NM_001042495.2:c.3050C>A	NP_001035960.1:p.Pro1017Gln
NM_001042496.2:c.3200C>A	NP_001035961.1:p.Pro1067Gln
NM_001042497.2:c.3182C>A	NP_001035962.1:p.Pro1061Gln
NM_133647.2:c.3227C>A	NP_598408.1:p.Pro1076Gln